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2.
Eur J Hum Genet ; 2024 Feb 06.
Artículo en Inglés | MEDLINE | ID: mdl-38316954

RESUMEN

The use of genomic data in research and genomic information in clinical care is increasing as technologies advance and sequencing costs decrease. Using Rogers' Diffusion of Innovation (DOI) theory as a framework we reviewed recent literature examining publics' current knowledge of, attitude to, and motivation towards health-related genomics in clinical and research settings. The population of interest was described as 'publics' to denote the heterogeneity of 'the public'. Eligible studies were published in English between 2016-2022. We retrieved 1657 records, with 278 full-text reviewed against the eligibility criteria and concept definitions. In total, 99 articles were included in the review and descriptive numerical summaries were collated. Knowledge literature was categorized using deductive thematic analysis. For attitude and motivation, literature was coded using an analytic framework developed by the authors. There was wide variability in concept definition and measurement across studies. Overall, there was general positivity about genomics, with high awareness but little familiarity or factual knowledge. Publics had high expectations of genomics and perceived that it could provide them with information for their future. Only a few key attitudes were found to be important as motivators or barriers for participation in genomics; these were related to personal and clinical utility of the information. Context was often missing from studies, decreasing the utility of findings for implementation or public engagement. Future research would benefit by using theory-driven approaches to assess relevant publics' knowledge and attitudes of specific contexts or applications to support genomic implementation and informed decision-making.

3.
NPJ Genom Med ; 8(1): 13, 2023 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-37355653

RESUMEN

Genomic medicine is being implemented on a global scale, requiring a genomic-competent health workforce. To inform education as part of implementation strategies to optimize adoption of genomics by non-genetics physicians, we investigated current practices, perceptions and preferences relating to genomic testing and education. Australian non-genetics physicians completed an online survey; we conducted univariate and multivariate analyses of determinants of confidence and engagement with genomic medicine. Confident or engaged respondents were more likely to be pediatricians, have completed continuing genomics education (CGE) and/or have genomics research experience. Confident or engaged respondents were also more likely to prefer to request genomic testing with support from genetics services than other models. Respondents who had completed CGE and were engaged reported higher confidence than those who were not engaged. We propose a progression of genomic competence aligned with service delivery models, where education is one enabler of mastery or independence to facilitate genomic tests (from referral to requesting with or without clinical genetics support). Workplace learning could provide additional impetus for adoption.

4.
Genet Med ; 25(8): 100876, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37149760

RESUMEN

PURPOSE: This study aimed to develop an online educational program for using polygenic risk score (PRS) for breast and ovarian cancer risk assessments and to evaluate the impact on the attitudes, confidence, knowledge, and preparedness of genetic health care providers (GHPs). METHODS: The educational program comprises an online module that covers the theoretical aspects of PRS and a facilitated virtual workshop with prerecorded role-plays and case discussions. Data were collected in pre- and posteducation surveys. Eligible participants were GHPs working in Australian familial cancer clinics registered to recruit patients for a breast and ovarian cancer PRS clinical trial (n = 12). RESULTS: A total of 124 GHPs completed the PRS education, of whom 80 (64%) and 67 (41%) completed the pre- and posteducation surveys, respectively. Before education, GHPs reported limited experience, confidence, and preparedness using PRS, but they recognized its potential benefits. After education, GHPs indicated improved attitudes (P ≤ .001), confidence (P ≤ .001), knowledge (P ≤ .001), and preparedness (P ≤ .001) to use PRS. Most GHPs thought that the program entirely met their learning needs (73%) and was completely relevant to their clinical practice (88%). GHPs identified PRS implementation barriers, including limited funding models, diversity issues, and need for clinical guidelines. CONCLUSION: Our education program improved GHP attitudes, confidence, knowledge, and preparedness for using PRS/personalized risk and provides a framework for the development of future programs.


Asunto(s)
Aprendizaje , Neoplasias Ováricas , Humanos , Femenino , Australia , Factores de Riesgo
5.
Eur J Hum Genet ; 31(3): 257-261, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36631541

RESUMEN

A Community Genetics carrier screening program for the Jewish community has operated on-site in high schools in Sydney (Australia) for 25 years. During 2020, in response to the COVID-19 pandemic, government-mandated social-distancing, 'lock-down' public health orders, and laboratory supply-chain shortages prevented the usual operation and delivery of the annual testing program. We describe development of three responses to overcome these challenges: (1) pivoting to online education sufficient to ensure informed consent for both genetic and genomic testing; (2) development of contactless telehealth with remote training and supervision for collecting genetic samples using buccal swabs; and (3) a novel patient and specimen identification 'GeneTrustee' protocol enabling fully identified clinical-grade specimens to be collected and DNA extracted by a research laboratory while maintaining full participant confidentiality and privacy. These telehealth strategies for education, consent, specimen collection and sample processing enabled uninterrupted delivery and operation of complex genetic testing and screening programs even amid pandemic restrictions. These tools remain available for future operation and can be adapted to other programs.


Asunto(s)
COVID-19 , Humanos , COVID-19/epidemiología , Pandemias , Manejo de Especímenes/métodos , Consentimiento Informado , Pruebas Genéticas
6.
Front Genet ; 13: 919134, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36353112

RESUMEN

Background: Melanoma genetic testing reportedly increases preventative behaviour without causing psychological harm. Genetic testing for familial melanoma risk is now available, yet little is known about dermatologists' perceptions regarding the utility of testing and genetic testing ordering behaviours. Objectives: To survey Australasian Dermatologists on the perceived utility of genetic testing, current use in practice, as well as their confidence and preferences for the delivery of genomics education. Methods: A 37-item survey, based on previously validated instruments, was sent to accredited members of the Australasian College of Dermatologists in March 2021. Quantitative items were analysed statistically, with one open-ended question analysed qualitatively. Results: The response rate was 56% (256/461), with 60% (153/253) of respondents between 11 and 30 years post-graduation. While 44% (112/252) of respondents agreed, or strongly agreed, that genetic testing was relevant to their practice today, relevance to future practice was reported significantly higher at 84% (212/251) (t = -9.82, p < 0.001). Ninety three percent (235/254) of respondents reported rarely or never ordering genetic testing. Dermatologists who viewed genetic testing as relevant to current practice were more likely to have discussed (p < 0.001) and/or offered testing (p < 0.001). Respondents indicated high confidence in discussing family history of melanoma, but lower confidence in ordering genetic tests and interpreting results. Eighty four percent (207/247) believed that genetic testing could negatively impact life insurance, while only 26% (63/244) were aware of the moratorium on using genetic test results in underwriting in Australia. A minority (22%, 55/254) reported prior continuing education in genetics. Face-to-face courses were the preferred learning modality for upskilling. Conclusion: Australian Dermatologists widely recognise the relevance of genetic testing to future practice, yet few currently order genetic tests. Future educational interventions could focus on how to order appropriate genetic tests and interpret results, as well as potential implications on insurance.

7.
Trends Genet ; 38(6): 517-520, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35397933

RESUMEN

Molecular animations can be beneficial as teaching tools for genomics education; however, barriers to their effective implementation remain. This article proposes informed design guidelines from the perspective of the animator that may assist others to effectively communicate scientific concepts to their respective audiences and communities.


Asunto(s)
Educación de Pregrado en Medicina , Genómica
8.
Intern Med J ; 52(7): 1135-1143, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35191159

RESUMEN

BACKGROUND: Despite healthcare professionals (HCP) endorsing the clinical utility of pharmacogenomics testing, use in clinical practice is limited. AIMS: To assess HCP' perceptions of pharmacogenomic testing and identify barriers to implementation. METHODS: HCP involved in prescribing decisions at three hospitals in Sydney, Australia, were invited to participate. The online survey assessed perceptions of pharmacogenomic testing, including: (i) demographic and practice variables; (ii) use, knowledge and confidence; (iii) perceived benefits; (iv) barriers to implementation; and (v) operational and/or system changes and personnel required to implement on site. RESULTS: HCP were predominantly medical practitioners (75/107) and pharmacists (25/107). HCP perceived pharmacogenomic testing was beneficial to identify reasons for drug intolerance (85/95) and risk of side-effects (86/95). Although testing was considered relevant to their practice (79/100), few HCP (23/100) reported past or intended future use (26/100). Few HCP reported confidence in their ability to identify indications for pharmacogenomic testing (14/107), order tests (19/106) and communicate results with patients (16/107). Lack of clinical practice guidelines (62/79) and knowledge (54/77) were identified as major barriers to implementation of pharmacogenomics. Comprehensive reimbursement for testing and clinical practice guidelines, alongside models-of-care involving multidisciplinary teams and local clinical champions were suggested as strategies to facilitate implementation of pharmacogenomic testing into practice. CONCLUSIONS: Pharmacogenomic testing was considered important to guide drug selection and dosing decisions. However, limited knowledge, low confidence and an absence of guidelines impede the use of pharmacogenomic testing. Establishment of local resources including multidisciplinary models-of-care was suggested to facilitate implementation of pharmacogenomics.


Asunto(s)
Farmacogenética , Pruebas de Farmacogenómica , Australia , Hospitales , Humanos , Percepción , Pruebas de Farmacogenómica/métodos
9.
Eur J Hum Genet ; 30(3): 363-366, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34602610

RESUMEN

Researchers and research participants increasingly support returning clinically actionable genetic research findings to participants, but researchers may lack the skills and resources to do so. In response, a genetic counsellor-led program to facilitate the return of clinically actionable findings to research participants was developed to fill the identified gap in research practice and meet Australian research guidelines. A steering committee of experts reviewed relevant published literature and liaised with researchers, research participants and clinicians to determine the scope of the program, as well as the structure, protocols and infrastructure. A program called My Research Results (MyRR) was developed, staffed by genetic counsellors with input from the steering committee, infrastructure services and a genomic advisory committee. MyRR is available to Human Research Ethics Committee approved studies Australia-wide and comprises genetic counselling services to notify research participants of clinically actionable research findings, support for researchers with developing an ethical strategy for managing research findings and an online information platform. The results notification strategy is an evidence-based two-step model, which has been successfully used in other Australian studies. MyRR is a translational program supporting researchers and research participants to access clinically actionable research findings.


Asunto(s)
Comités de Ética en Investigación , Genómica , Australia , Asesoramiento Genético , Genoma , Genómica/métodos , Humanos
10.
Aust J Gen Pract ; 50(10): 747-752, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34590089

RESUMEN

BACKGROUND AND OBJECTIVES: Genomics is moving rapidly into mainstream medicine through clinical genomic testing and consumer-initiated online DNA testing. The aim of this study was to identify Australian general practitioners' (GPs') views on genomics, impact on practice and educational needs to inform continuing education. METHOD: Semi-structured interviews were conducted, with constant comparative inductive analysis and governance from a national taskforce. RESULTS: Twenty-eight GPs (43% female) were interviewed; 71% worked in a metropolitan workplace. Most initially reported little experience with genetic/genomic tests but, when prompted, recognised encountering genomics, mainly non-invasive prenatal and single-gene tests. Many GPs referred patients for cancer screening to genetic services or specialists. GPs reported needing continuing education and resources, with preferences underpinned by relevance to practice. DISCUSSION: GPs are integrating genomic testing into care, mainly through prenatal screening, and anticipate further impact. They want diverse and context-dependent education but are unaware of some available resources, such as The Royal Australian College of General Practitioners' Genomics in general practice guideline.


Asunto(s)
Médicos Generales , Actitud del Personal de Salud , Australia , Femenino , Genómica , Humanos , Masculino , Embarazo , Investigación Cualitativa
11.
J Community Genet ; 12(4): 653-662, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34550561

RESUMEN

As genomics becomes embedded into healthcare, public genomic health literacy is critical to support decision-making for personal and family health decisions and enable citizens to engage with related social issues. School science education has the potential to establish the foundations of genetic and genomic literacy. The concept of literacy extends beyond conceptual understanding of biological principles to familiarity with the applications and implications of genetics, critical thinking skills, and socioscientific reasoning. We developed and evaluated a suite of resources for teaching genetics and genomics in the Australian senior biology syllabus for students aged 16-18 years. The aim was to increase teachers' knowledge and confidence to teach genetic and genomic content, and their capacity to develop robust genetic literacy in their students. Resources, including an inquiry-based task and five associated lesson plans, were developed and made freely available to teachers online. Evaluation was undertaken between December 2019 and March 2020 with a post-use survey emailed to teachers who had accessed the resources. The 56 teachers who responded rated the resources as high quality, engaging, and well-aligned with the syllabus. Teachers who used the resources self-reported increases in their knowledge and confidence in teaching. They also perceived positive outcomes in their students, reporting that the resources deepened their students understanding of genetic concepts, helped them to consider social and ethical issues, and developed their higher order thinking skills. Findings may inform future interactions with high schools to improve genetic literacy.

12.
Eur J Hum Genet ; 29(12): 1811-1818, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34446835

RESUMEN

Human research ethics committees (HRECs) are evaluating increasing quantities of genomic research applications with complex ethical considerations. Genomic confidence is reportedly low amongst many non-genetics-experts; however, no studies have evaluated genomic confidence levels in HREC members specifically. This study used online surveys to explore genomic confidence levels, predictors of confidence, and genomics resource needs of members from 185 HRECs across Australia. Surveys were fully or partially completed by 145 members. All reported having postgraduate 94 (86%) and/or bachelor 15 (14%) degrees. Participants consisted mainly of researchers (n = 45, 33%) and lay members (n = 41, 30%), affiliated with either public health services (n = 73, 51%) or public universities (n = 31, 22%). Over half had served their HREC [Formula: see text]3 years. Fifty (44%) reviewed genomic studies [Formula: see text]3 times annually. Seventy (60%) had undertaken some form of genomic education. While most (94/103, 91%) had high genomic literacy based on familiarity with genomic terms, average genomic confidence scores (GCS) were moderate (5.7/10, n = 119). Simple linear regression showed that GCS was positively associated with years of HREC service, frequency of reviewing genomic applications, undertaking self-reported genomic education, and familiarity with genomic terms (p < 0.05 for all). Conversely, lay members and/or those relying on others when reviewing genomic studies had lower GCSs (p < 0.05 for both). Most members (n = 83, 76%) agreed further resources would be valuable when reviewing genomic research applications, and online courses and printed materials were preferred. In conclusion, even well-educated HREC members familiar with genomic terms lack genomic confidence, which could be enhanced with additional genomic education and/or resources.


Asunto(s)
Comités de Ética/ética , Genética Humana/ética , Adulto , Australia , Escolaridad , Comités de Ética/normas , Femenino , Genómica/ética , Humanos , Masculino , Persona de Mediana Edad , Revisión por Pares/ética
13.
Genet Med ; 23(7): 1356-1365, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33824503

RESUMEN

PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions. METHODS: Draft standards were derived from literature (25 items from 21 publications). Thirty-six international experts were purposively recruited for three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility, and design. RESULTS: The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and 1 on stakeholder engagement. CONCLUSION: These Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as adoption by journals and policy makers as the expected standard, will support greater transparency, consistency, and comprehensiveness of reporting. Consequently, the genomics education evidence base will be more robust, enabling high-quality education and evaluation across diverse settings.


Asunto(s)
Genómica , Informe de Investigación , Consenso , Técnica Delphi , Humanos , Participación de los Interesados
14.
Health Expect ; 24(2): 670-686, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33635607

RESUMEN

BACKGROUND: Consumer genomic testing for nutrition and wellness, (nutritional genomics), is becoming increasingly popular. Concurrently, health-care practitioners (HPs) working in private practice (including doctors interested in integrative medicine, private genetic counsellors, pharmacists, dieticians, naturopaths and nutritionists) are involved as test facilitators or interpreters. OBJECTIVE: To explore Australian consumers' and HPs' experiences with nutrigenomic testing. METHOD: Semi-structured in-depth interviews were conducted using predominantly purposive sampling. The two data sets were analysed individually, then combined, using a constant comparative, thematic approach. RESULTS: Overall, 45 interviews were conducted with consumers (n = 18) and HPs (n = 27). Many of the consumer interviewees experienced chronic ill-health. Nutrigenomic testing was perceived as empowering and a source of hope for answers. While most made changes to their diet/supplements post-test, self-reported health improvements were small. A positive relationship with their HP appeared to minimize disappointment. HPs' adoption and views of nutrigenomic testing varied. Those enthusiastic about testing saw the possibilities it could offer. However, many felt nutrigenomic testing was not the only 'tool' to utilize when offering health care. DISCUSSION: This research highlights the important role HPs play in consumers' experiences of nutrigenomics. The varied practice suggests relevant HPs require upskilling in this area to at least support their patients/clients, even if nutrigenomic testing is not part of their practice. PATIENT OR PUBLIC CONTRIBUTION: Advisory group included patient/public group representatives who informed study design; focus group participants gave feedback on the survey from which consumer interviewees were sourced. This informed the HP data set design. Interviewees from HP data set assisted with snowball sampling.


Asunto(s)
Motivación , Nutrigenómica , Australia , Grupos Focales , Humanos , Investigación Cualitativa
15.
Twin Res Hum Genet ; 23(4): 256-258, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32838824

RESUMEN

Increasingly, consumers have been able to seek DNA testing online to explore their personal genetic information. This increased access to a range of genomic tests has raised concerns among health professionals tasked with providing guidance and support to patients requiring genetic/genomic testing. Individuals will seek genomic testing for a range of purposes; equally, the medical marketplace offers a range of different test types. The Human Genetics Society of Australasia (HGSA) published their first statement on Direct to Consumer Genetic Testing (2012 PS02). This is a revised statement, which considers developments in the field of online DNA testing, including rapid technological changes, diversity of applications and decreasing costs of testing. It draws from the first empirical nationwide study (Genioz - Genomics: National Insights of Australians) and insights from consumers with experience of this technology. The rapid adoption of these tests and the broad range of potential consequences have informed perspectives within this statement. It is the position of the HGSA that both individuals/consumers and health care professionals/providers should be supported to make informed choices about online DNA testing. This means adequate and ongoing education and resources should be available for individuals/consumers and health care professionals/providers before, during and after testing. Health care professionals/providers should be appropriately trained, have relevant experience and should be able to demonstrate (or provide evidence of) a current certification in their field of practice. This statement was ratified at the 2018 HGSA Council Meeting and was recently reviewed in 2019 for consistency with other HGSA position statements.


Asunto(s)
Pruebas Dirigidas al Consumidor , Pruebas Genéticas , Sociedades Médicas , Australasia , Australia , ADN , Genética Humana , Humanos
16.
Front Genet ; 10: 1057, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31781158

RESUMEN

Targeted genomic education and training of professionals have been identified as core components of strategies and implementation plans for the use of genomics in health care systems. Education needs to be effective and support the sustained and appropriate use of genomics in health care. Evaluation of education programs to identify effectiveness is challenging. Furthermore, those responsible for development and delivery are not necessarily trained in education and/or evaluation. Program logic models have been used to support the development and evaluation of education programs by articulating a logical explanation as to how a program intends to produce the desired outcomes. These are highly relevant to genomic education programs, but do not appear to have been widely used to date. To assist those developing and evaluating genomic education programs, and as a first step towards enabling identification of effective genomic education approaches, we developed a consensus program logic model for genomic education. We drew on existing literature and a co-design process with 24 international genomic education and evaluation experts to develop the model. The general applicability of the model to the development of programs was tested by program convenors across four diverse settings. Conveners reported on the utility and relevance of the logic model across development, delivery and evaluation. As a whole, their feedback suggests that the model is flexible and adaptive across university award programs, competency development and continuing professional development activities. We discuss this program logic model as a potential best practice mechanism for developing genomic education, and to support development of an evaluation framework and consistent standards to evaluate and report genomic education program outcomes and impacts.

17.
Eur J Med Genet ; 62(5): 397-404, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31085343

RESUMEN

Personal genome screening (PGenS) is increasingly being offered as a screen for future health management, and to identify carrier status pertinent to reproductive decision-making. The aim of this study was therefore to explore the experience of individuals who undertook PGenS through the 2014 Sydney "Understand Your Genome (UYG)" event and a 2015 offer of PGenS by Australian biotechnology company Life Letters (LL). Eligible individuals were invited to participate by their clinical geneticist (UYG), or email from Director of LL. Semi-structured telephone interviews with 17 individuals were audio-recorded, transcribed, de-identified and analyzed by two coders using thematic analysis with an inductive approach. Nine participants had genetic/genomics expertise and eight were well-informed health and business professionals. Individual participant PGenS results included: an autosomal dominant condition not previously clinically identified (n = 1); carrier status for recessive condition(s) (n = 8); a number of disease-causing variants associated with an increased susceptibility to an inherited disorder (n = 7); variants of uncertain significance (n = 5); and a few pharmacogenomically-relevant variants (n = 4). The majority of participants described the importance of pre-test genetic counseling, information and/or consent (n = 12). Some barriers to uptake were identified, including scepticism by GPs (n = 6), colleagues (n = 3), and family members (n = 2), as well as privacy concerns (n = 4). Those without genetic/genomics expertise were mostly motivated to have testing by curiosity or interest in personal health (6/8), one seeking a diagnosis for an inherited medical condition and another for future health management. For many with genetic/genomics experience, the motivation was professional interest (8/9) and/or curiosity (5/9), without concern for personal health risk (4/9). On reflection, despite this initial motivation by the latter, the test result had unanticipated personal impact for some of this group, which changed over time (4/5). Several later recognized this, as health problems developed or family history was interrogated more closely. For all participants, disclosure of results to extended family members was limited. Most participants felt personal and family implications and communication (5/17) and/or expectations (3/17) should be addressed at the pre-test session, including more emphasis on residual risk and changes in interpretation with developing phenotypes. Those without genetics/genomics expertise highlighted the need for easy to understand pre-test information and/or an example report to be provided (7/8). These results are consistent with a need to develop more accessible resources, and more personalized counseling approaches to address expectations, dissemination of results, and preparedness for unexpected findings.


Asunto(s)
Pruebas Dirigidas al Consumidor/métodos , Pruebas Genéticas/métodos , Alfabetización Informacional , Adulto , Actitud , Pruebas Dirigidas al Consumidor/psicología , Pruebas Dirigidas al Consumidor/normas , Femenino , Pruebas Genéticas/normas , Humanos , Masculino , Persona de Mediana Edad
18.
J Genet Couns ; 28(2): 378-387, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30629777

RESUMEN

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.


Asunto(s)
Asesoramiento Genético , Pruebas Genéticas , Genómica , Consentimiento Informado , Adulto , Australia , Asesoramiento Genético/ética , Asesoramiento Genético/normas , Asesoramiento Genético/tendencias , Pruebas Genéticas/ética , Pruebas Genéticas/normas , Pruebas Genéticas/tendencias , Genómica/ética , Genómica/normas , Genómica/tendencias , Humanos , Consentimiento Informado/ética , Consentimiento Informado/normas , Persona de Mediana Edad , Reino Unido
19.
Eur J Hum Genet ; 27(5): 711-720, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30666046

RESUMEN

Personal genomic tests (PGTs) for multiple purposes are marketed to ostensibly healthy people in Australia. These tests are generally marketed and purchased online commercially or can be ordered through a health professional. There has been minimal engagement with Australians about their interest in and experience with ordering a PGT. As part of a multistage, interdisciplinary project, an online survey (Stage 2 of the Genioz study) was available from May 2016 to May 2017. In total, 3253 respondents attempted the survey, with 2395 completed Australian responses from people with and without experience of having a PGT: 72% were female; 59% of the whole sample were undertaking/or had a university education; and, overall, age ranged from 18-over 80. A total of 571 respondents reported having had a genetic test, 373 of these classifiable as a PGT. A bivariate analysis suggests people who have undergone PGT in our sample were: women aged 25 and over; or in a high socioeconomic group, or have a personal or family diagnosis of a genetic condition (P ≤ 0.03). After a multivariate analysis, socioeconomic status and a genetic condition in the family were not of significance. The most common types of PGT reported were for carrier status and ancestry. Findings suggest greater awareness of, and an increasing demand for non-health related PGT in Australia. To support both consumers and health care professionals with understanding PGT results, there is a need for appropriate support and resources.


Asunto(s)
Pruebas Genéticas , Genoma Humano , Conocimientos, Actitudes y Práctica en Salud , Encuestas y Cuestionarios , Adolescente , Adulto , Australia , Demografía , Femenino , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Satisfacción del Paciente , Adulto Joven
20.
Eur J Med Genet ; 62(5): 290-299, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30439534

RESUMEN

Personal genomic testing using direct-to-consumer and consumer-directed models, with or without involvement of healthcare providers, is increasing internationally, including in Australia. This study forms a sub-set of the Genioz study - Genomics: National Insights of Australians. We aimed to explore Australians' experiences with these types of tests, especially online DNA tests, and their views regarding whom they would seek support from around understanding test results. The study used a mixed methods approach, employing an exploratory quantitative online survey and follow-up qualitative semi-structured interviews. Between May 2016 and May 2017, 2841 Australians responded to the survey. Interviews were conducted with 63 purposively sampled respondents, including 45 who had a genetic test and 18 who had not. Of 571 respondents who had any type of genetic test, 322 had a personal genomic test using criteria defined by the researchers. Testing for ancestry/genealogy was the most common, reported by 267 participants, reflecting the increased advertising of these tests in Australia. Some respondents described downloading their raw data for further interpretation through third party websites for genealogical as well as health related information. Carrier testing, testing for serious and preventable conditions and nutrition and/or wellness were the most common health related tests reported by respondents. Participants generally preferred to seek support from general practitioners (GPs), medical specialists with relevant expertise and independent genetics specialists, although another important preference for non-health information was online forums and networks. There was less preference for seeking support from employees associated with the testing companies. Generally, of those who had a health related PGT, the most common actions were seeking medical advice or doing nothing with the information, while more of those who had a personal genomic test for nutrition and/or wellness sought advice from complementary/alternative health practitioners (eg naturopaths) and integrative GPs, and 60% reported they had changed their diet. As awareness of personal genomic testing increases, publicly funded clinical genetics services may be less inclined to discuss results from personal genomic testing. Genetic counsellors could play an important role in providing this support, both pre-test and post-test, through opportunities for private practice but independent from testing companies.


Asunto(s)
Pruebas Dirigidas al Consumidor/psicología , Pruebas Genéticas/estadística & datos numéricos , Conocimientos, Actitudes y Práctica en Salud , Adolescente , Adulto , Anciano , Australia , Pruebas Dirigidas al Consumidor/estadística & datos numéricos , Utilización de Instalaciones y Servicios , Femenino , Pruebas Genéticas/métodos , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Secuenciación Completa del Genoma/estadística & datos numéricos
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