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European Journal of Human Genetics :... Dec 2022Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on... (Review)
Review
Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on healthcare professionals' knowledge and views about DTC-GT, as an update to a 2012 systematic review. The secondary aim was to assess the knowledge and views of healthcare professionals on the ethical and legal issues pertaining to DTC-GT. A systematic search was performed to identify all relevant studies that have been conducted since 2012. Studies fulfilled the inclusion criteria if they were primary research papers conducted on healthcare professionals about their knowledge and views on health-related DTC-GT. PubMed, Embase, CINAHL, PsycINFO and Medline databases were searched from 2012 to May 2021. Title and abstract were screened, and full texts were reviewed by two study authors independently. New papers included were appraised and data were extracted on study characteristics, knowledge and views on DTC-GT, and ethical and legal issues. A narrative synthesis was conducted. Nineteen new papers were included, along with eight papers from the previous review. There was considerable variation in study participants with differing views, awareness levels, and levels of knowledge about DTC-GT. Genetic counsellors and clinical geneticists generally had more concerns, experience, and knowledge regarding DTC-GT. Ten ethical concerns and four legal concerns were identified. Healthcare professionals' knowledge and experience of DTC-GT, including awareness of DTC-GT ethical and legal concerns, have only minimally improved since the previous review. This emphasises the need for further medical learning opportunities to improve the gaps in knowledge amongst healthcare professionals about DTC-GT.
Topics: Humans; Delivery of Health Care; Direct-To-Consumer Screening and Testing; Genetic Testing; Health Personnel; Morals
PubMed: 36220915
DOI: 10.1038/s41431-022-01205-8 -
BMC Health Services Research Sep 2022Effective care services for people whose work participation is at risk require low-threshold access, a comprehensive diagnostic clarification of intervention needs, a...
BACKGROUND
Effective care services for people whose work participation is at risk require low-threshold access, a comprehensive diagnostic clarification of intervention needs, a connection to the workplace and job demands, and interdisciplinary collaboration between key stakeholders at the interface of rehabilitation and occupational medicine. We have developed a comprehensive diagnostic service to clarify intervention needs for employees with health restrictions and limited work ability: this service is initiated by occupational health physicians.
METHODS/DESIGN
Our randomized controlled trial tests the effectiveness of a comprehensive diagnostic service for clarifying intervention needs (GIBI: Comprehensive clarification of the need for intervention for people whose work participation is at risk). The comprehensive intervention comprises three elements: initial consultation, two-day diagnostics at a rehabilitation center and follow-up consultations. We will include 210 employees with health restrictions and limited work ability, who are identified by occupational health physicians. All individuals will receive an initial consultation with their occupational health physician to discuss their health, work ability and job demands. After this, half the individuals are randomly assigned to the intervention group and the other half to the waiting-list control group. Individuals in the intervention group start two-day diagnostics, carried out by a multi-professional rehabilitation team in a rehabilitation center, shortly after the initial consultation. The diagnostics will allow first recommendations for improving work participation. The implementation of these recommendations is supported by an occupational health physician in four follow-up consultations. The control group will receive the comprehensive two-day diagnostic service and subsequent follow-up consultations six months after the initial consultation. The primary outcome of the randomized controlled trial is self-rated work ability assessed using the Work Ability Score (0 to 10 points) six months after study inclusion. Secondary outcomes include a range of patient-reported outcomes regarding physical and mental health, impairment, and the physical and mental demands of jobs.
DISCUSSION
This randomized controlled trial is designed to test the effects of a new complex intervention involving a comprehensive clarification of intervention needs in order to promote work participation and prevent the worsening of health and work disability.
TRIAL REGISTRATION
German Clinical Trials Register (DRKS00027577, February 01, 2022).
Topics: Diagnostic Services; Humans; Medicine; Occupational Health Physicians; Occupational Medicine; Randomized Controlled Trials as Topic; Rehabilitation Centers
PubMed: 36085150
DOI: 10.1186/s12913-022-08513-1 -
The Journal of Molecular Diagnostics :... May 2020Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities. Protocols to develop screening tests are well... (Review)
Review
Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities. Protocols to develop screening tests are well established. However, the application of screening principles to inherited diseases presents unique challenges. Unlike most screening tests, the natural history and disease prevalence of most rare inherited diseases in an unselected population are unknown. It is difficult or impossible to obtain a truth set cohort for clinical validation studies. As a result, it is not possible to accurately calculate clinical positive and negative predictive values for likely pathogenic variants, which are commonly returned in genetic screening assays. In addition, many of the genetic conditions included in screening panels do not have clinical confirmatory tests. All these elements are typically required to justify the development of a screening test, according to the World Health Organization screening principles. Nevertheless, as the cost of DNA sequencing continues to fall, more individuals are opting to undergo genomic testing in the absence of a clinical indication. Despite the challenges, reasonable estimates can be deduced and used to inform test design strategies. Herein, we review basic test design principles and apply them to genetic screening.
Topics: Genetic Association Studies; Genetic Diseases, Inborn; Genetic Predisposition to Disease; Genetic Testing; Genetic Variation; Humans; Mass Screening; Research Design
PubMed: 32092541
DOI: 10.1016/j.jmoldx.2020.01.014 -
Malaria Journal Feb 2021In Ethiopia, malaria cases are declining as a result of proven interventions, and in 2017 the country launched a malaria elimination strategy in targeted settings....
BACKGROUND
In Ethiopia, malaria cases are declining as a result of proven interventions, and in 2017 the country launched a malaria elimination strategy in targeted settings. Accurate malaria diagnosis and prompt treatment are the key components of the strategy to prevent morbidity and stop the continuation of transmission. However, the quality of microscopic diagnosis in general is deteriorating as malaria burden declines. This study was carried out to evaluate the competency of microscopists and the performance of health facilities on malaria microscopic diagnosis.
METHODS
A cross-sectional study was conducted from 1 August to 30 September, 2019 in 9 regional states and one city administration. A standard checklist was used for on-site evaluation, archived patient slides were re-checked and proficiency of microscopists was tested using a WHO-certified set of slides from the national slide bank at the Ethiopian Public Health Institute (EPHI). The strength of agreement, sensitivity, specificity, and positive and negative predictive values were calculated.
RESULTS
In this study, 102 health facilities (84 health centres and 18 hospitals) were included, from which 202 laboratory professionals participated. In slide re-checking, moderate agreement (agreement (A): 76.0%; Kappa (K): 0.41) was observed between experts and microscopists on malaria detection in all health facilities. The sensitivity and specificity of routine slide reading and the re-checking results were 78.1 and 80.7%, respectively. Likewise, positive predictive value of 65.1% and negative predictive value of 88.8% were scored in the routine diagnosis. By panel testing, a substantial overall agreement (A: 91.8%; K: 0.79) was observed between microscopists and experts in detecting malaria parasites. The sensitivity and specificity in the detection of malaria parasites was 92.7 and 89.1%, respectively. In identifying species, a slight agreement (A: 57%; K: 0.18) was observed between microscopists and experts.
CONCLUSION
The study found significant false positive and false negative results in routine microscopy on slide re-checking of Plasmodium parasites. Moreover, reduced grade in parasite species identification was reported on the panel tests. Implementing comprehensive malaria microscopy mentorship, in-service training and supportive supervision are key strategies to improve the overall performance of health facilities in malaria microscopy.
Topics: Adult; Cross-Sectional Studies; Diagnostic Services; Diagnostic Tests, Routine; Ethiopia; Female; Health Facilities; Humans; Malaria; Male; Mentors; Microscopy; Middle Aged; Professional Competence; Sensitivity and Specificity; Young Adult
PubMed: 33632208
DOI: 10.1186/s12936-021-03655-9 -
Journal of Clinical Virology : the... Sep 2019For some well-known pathogens like influenza or RSV, diagnostic and epidemiological data is available and continuously complement each other. For most other pathogens... (Review)
Review
For some well-known pathogens like influenza or RSV, diagnostic and epidemiological data is available and continuously complement each other. For most other pathogens however, data is not always available or severely delayed. Furthermore, clinical data is needed to assess the burden of disease, which will enhance awareness and help to gain knowledge on emerging pathogens. In this position paper, we discuss the interdependence of diagnostics and epidemiology from a European perspective. In 2004, the European Centre for Disease Prevention and Control (ECDC) was founded to coordinate European wide surveillance and control. At present however, the ECDC still relies on university hospitals, public health institutions and other diagnostic institutions. Close collaboration between all stakeholders across Europe is therefore complex, but necessary to optimize the system for the individual patient. From the diagnostic side, data on detected pathogens should be shared with relevant health institutions in real-time. From the public health side, collected information should be made accessible for diagnostic and clinical institutions in real-time. Subsequently, this information needs to be disseminated across relevant medical disciplines to reach its full potential.
Topics: Communicable Disease Control; Diagnostic Services; Epidemiological Monitoring; Europe; Humans; Information Dissemination; International Cooperation; Virus Diseases; Viruses
PubMed: 31301517
DOI: 10.1016/j.jcv.2019.07.002 -
Radiology. Imaging Cancer Mar 2020Lung cancer remains the overwhelmingly greatest cause of cancer death in the United States, accounting for more annual deaths than breast, prostate, and colon cancer... (Review)
Review
Lung cancer remains the overwhelmingly greatest cause of cancer death in the United States, accounting for more annual deaths than breast, prostate, and colon cancer combined. Accumulated evidence since the mid to late 1990s, however, indicates that low-dose CT screening of high-risk patients enables detection of lung cancer at an early stage and can reduce the risk of dying from lung cancer. CT screening is now a recommended clinical service in the United States, subject to guidelines and reimbursement requirements intended to standardize practice and optimize the balance of benefits and risks. In this review, the evidence on the effectiveness of CT screening will be summarized and the current guidelines and standards will be described in the context of knowledge gained from lung cancer screening studies. In addition, an overview of the potential advances that may improve CT screening will be presented, and the need to better understand the performance in clinical practice outside of the research trial setting will be discussed. © RSNA, 2020.
Topics: Early Detection of Cancer; Humans; Lung Neoplasms; Mass Screening; Tomography, X-Ray Computed; United States
PubMed: 32300760
DOI: 10.1148/rycan.2020190058 -
Journal of Diabetes Science and... Feb 2016Modern ophthalmic practice in the United Kingdom is faced by the challenges of an aging population, increasing prevalence of systemic pathologies with ophthalmic... (Review)
Review
Modern ophthalmic practice in the United Kingdom is faced by the challenges of an aging population, increasing prevalence of systemic pathologies with ophthalmic manifestations, and emergent treatments that are revolutionary but dependent on timely monitoring and diagnosis. This represents a huge strain not only on diagnostic services but also outpatient management and surveillance capacity. There is an urgent need for newer means of managing this surge in demand and the socioeconomic burden it places on the health care system. Concurrently, there have been exponential increases in computing power, expansions in the strength and ubiquity of communications technologies, and developments in imaging capabilities. Advances in imaging have been not only in terms of resolution, but also in terms of anatomical coverage, allowing new inferences to be made. In spite of this, image analysis techniques are still currently superseded by expert ophthalmologist interpretation. Teleophthalmology is therefore currently perfectly placed to face this urgent and immediate challenge of provision of optimal and expert care to remote and multiple patients over widespread geographical areas. This article reviews teleophthalmology programs currently deployed in the United Kingdom, focusing on diabetic eye care but also discussing glaucoma, emergency eye care, and other retinal diseases. We examined current programs and levels of evidence for their utility, and explored the relationships between screening, teleophthalmology, disease detection, and monitoring before discussing aspects of health economics pertinent to diabetic eye care. The use of teleophthalmology presents an immense opportunity to manage the steadily increasing demand for eye care, but challenges remain in the delivery of practical, viable, and clinically proven solutions.
Topics: Diabetic Retinopathy; Diagnostic Techniques, Ophthalmological; Humans; Mass Screening; Telemedicine; United Kingdom
PubMed: 26830492
DOI: 10.1177/1932296816629983 -
Therapeutische Umschau. Revue... Feb 2015
Topics: Clinical Laboratory Services; Clinical Laboratory Techniques; Diagnostic Tests, Routine; Humans; Practice Patterns, Physicians'; Switzerland
PubMed: 25630287
DOI: 10.1024/0040-5930/a000646 -
Australian Dental Journal Sep 2016Diagnostic services are the most common area of dental service in Australia. The objective was to investigate differences in services per visit for examinations and...
BACKGROUND
Diagnostic services are the most common area of dental service in Australia. The objective was to investigate differences in services per visit for examinations and radiographs in relation to the characteristics of patients receiving these services in terms of age and gender, aspects of visiting such as dental insurance and reasons for visit, and oral health such as number of teeth and presence of decay.
METHODS
A random sample of Australian dentists was surveyed in 2009-2010. Data on diagnostic services and patient characteristics were collected from a service log.
RESULTS
A total of 1148 dentists responded (response rate = 67%). Models adjusted for age and gender of patients showed that rates [Rate Ratio, 95% CI] of examinations were higher for insured patients [1.13; 1.06-1.21], while rates of radiographs were higher for emergency visits [1.25; 1.11-1.48]. Patients with 20 or more teeth had higher rates for examinations [1.15; 1.01-1.32] and radiographs [1.28; 1.02-1.60]. Decayed teeth were associated with lower examination rates [0.70; 0.65-0.76] but higher rates of radiographs [1.34; 1.16-1.55].
CONCLUSIONS
The finding that number of teeth was associated with higher rates of examinations and radiographs suggests that retention of teeth could be influencing the increasing rates of diagnostic services in Australia.
Topics: Adolescent; Adult; Aged; Australia; Child; Child, Preschool; Dental Care; Diagnostic Services; Female; Humans; Insurance, Dental; Male; Middle Aged; Practice Patterns, Dentists'; Radiography, Dental; Surveys and Questionnaires; Tooth Diseases; Young Adult
PubMed: 27480290
DOI: 10.1111/adj.12373 -
BMC Health Services Research Mar 2020People with young-onset dementia (YOD) can often struggle getting the right treatment. This is because of their frequently different characteristics and needs compared...
BACKGROUND
People with young-onset dementia (YOD) can often struggle getting the right treatment. This is because of their frequently different characteristics and needs compared to people with late-onset dementia. The aim of this project was to assess a memory service for its adaptation to the needs and wishes of people with YOD and their carers.
METHODS
This project evaluated a memory service in the North West of England by performing two focus groups with clinical staff and six semi-structured interviews with people with YOD and carers. The focus groups took place on site and lasted one hour each. People with YOD and their carers were identified via the memory clinics caseload and via the local Alzheimer's Society charity organisation. Both focus groups and interviews were audio-recorded and transcribed, and data were analysed using thematic analysis. The public (a person living with YOD and his carer) were involved from the design stages of the project through to the analysis and dissemination.
RESULTS
Eleven members of staff with different clinical backgrounds participated in the focus groups and six interviews were held with people with YOD and their carers. Both indicated that whilst the diagnostic process is relatively well conducted at the service, the post-diagnostic service has many gaps. These include limited post-diagnostic support by the service, better enabling peer support, as well as providing meaningful activities, as some activities provided might be more suitable to older adults with dementia.
CONCLUSIONS
Post-diagnostic services and support for people with YOD and their carers need to be improved. The next step will be to implement the findings from this service evaluation in practice and improve service satisfaction and relevance to people with YOD.
Topics: Age of Onset; Caregivers; Dementia; England; Female; Focus Groups; Health Services Research; Humans; Male; Middle Aged
PubMed: 32143694
DOI: 10.1186/s12913-020-5027-8