-
International Journal of Audiology Apr 2021The purpose of this scoping review was two-fold, (1) to provide information about the characteristics, type of service delivery, participant information and outcomes... (Review)
Review
OBJECTIVE
The purpose of this scoping review was two-fold, (1) to provide information about the characteristics, type of service delivery, participant information and outcomes related to tele-audiology in clinical popluations, and (2) to describe documented facilitators and barriers to tele-audiology delivery from the perspectives of practitioners and service recipients. Knowledge of these findings can assist audiologists in considering remote service delivery options for their practices.
DESIGN
A scoping review was conducted in November 2019 to identify English-language peer-reviewed journal articles published from 1 January 2010 to 30 October 2019 related to remote clinical service delivery in audiology.
RESULTS
Thirty-six published research articles were included. Research studies were classified into four broad areas with some articles including more than one area within the scope of their article: Screening ( = 5), Diagnostic ( = 5), Intervention ( = 18), and Perspectives ( = 22).
CONCLUSION
Hearing healthcare service delivery is expanding with the changing technological landscape, providing greater opportunities and flexibility for audiologists and patients. There are clear opportunities for interdisciplinary collaboration and for collaboration with on-site local facilitators. Local facilitators, with training, can assist in connecting individuals to follow-up care, provide educational support, and needed hands-on assistance for specialised testing.
Topics: Audiologists; Audiology; Hearing Tests; Humans; Mass Screening; Telemedicine
PubMed: 32909470
DOI: 10.1080/14992027.2020.1817994 -
Archives of Disease in Childhood Sep 2018In recent years, there have been significant advances in genetic technologies, evolving the field of genomics from genetics. This has huge diagnostic potential, as... (Review)
Review
In recent years, there have been significant advances in genetic technologies, evolving the field of genomics from genetics. This has huge diagnostic potential, as genomic testing increasingly becomes part of mainstream medicine. However, there are numerous potential pitfalls in the interpretation of genomic data. It is therefore essential that we educate clinicians more widely about the appropriate interpretation and utilisation of genomic testing.
Topics: Child; Child Health Services; Genetic Predisposition to Disease; Genetic Testing; Genomics; Humans; Phenotype
PubMed: 29574410
DOI: 10.1136/archdischild-2017-314558 -
Polskie Archiwum Medycyny Wewnetrznej 2016Despite being ubiquitous in primary care, there is no accepted consensus on the definition and main components of health checks. They range from periodic health... (Review)
Review
Despite being ubiquitous in primary care, there is no accepted consensus on the definition and main components of health checks. They range from periodic health evaluations with a general physician, through the screening and diagnostic tests derived from these visits, to broader screening programs. Health checks may promote a fluid patient-provider relationship, improve the delivery of some preventive measures, and reduce the patient's anxiety. However, they can also expose patients to overdiagnosis and unnecessary interventions. Research on the benefits, harms, and cost-effectiveness of health checks is limited. As a consequence, health checks and screening programs are implemented in several countries and supported by national scientific societies based chiefly on their potential benefits on surrogate outcomes. There is also substantial variability regarding the target population (eg, initial age), tests, or intervals. We call for a rigorous assessment of the net effect of all health checks, taking into consideration common biases (eg, sticky-diagnosis and slippery-linkage biases), patient-important outcomes, potential adverse events, cost-effectiveness, as well as equity and feasibility of the proposed programs.
Topics: Cost-Benefit Analysis; Diagnostic Services; General Practice; Humans; Physical Examination; Primary Health Care
PubMed: 26895552
DOI: 10.20452/pamw.3303 -
Diagnosis (Berlin, Germany) Aug 2021Clinical laboratory testing provides essential data for making medical diagnoses. Generating accurate and timely test results clearly communicated to the treating... (Review)
Review
OBJECTIVES
Clinical laboratory testing provides essential data for making medical diagnoses. Generating accurate and timely test results clearly communicated to the treating clinician, and ultimately the patient, is a critical component that supports diagnostic excellence. On the other hand, failure to achieve this can lead to diagnostic errors that manifest in missed, delayed and wrong diagnoses.
CONTENT
Innovations that support diagnostic excellence address: 1) test utilization, 2) leveraging clinical and laboratory data, 3) promoting the use of credible information resources, 4) enhancing communication among laboratory professionals, health care providers and the patient, and 5) advancing the use of diagnostic management teams. Integrating evidence-based laboratory and patient-care quality management approaches may provide a strategy to support diagnostic excellence. Professional societies, government agencies, and healthcare systems are actively engaged in efforts to advance diagnostic excellence. Leveraging clinical laboratory capabilities within a healthcare system can measurably improve the diagnostic process and reduce diagnostic errors.
SUMMARY
An expanded quality management approach that builds on existing processes and measures can promote diagnostic excellence and provide a pathway to transition innovative concepts to practice.
OUTLOOK
There are increasing opportunities for clinical laboratory professionals and organizations to be part of a strategy to improve diagnoses.
Topics: Clinical Laboratory Services; Communication; Delivery of Health Care; Diagnostic Errors; Humans; Laboratories
PubMed: 33554526
DOI: 10.1515/dx-2020-0119 -
Journal of Vascular Surgery Feb 2020Little is known about the public's knowledge of abdominal aortic aneurysms (AAA). Although preventive screening is available, millions of Americans remain unaware of...
OBJECTIVE
Little is known about the public's knowledge of abdominal aortic aneurysms (AAA). Although preventive screening is available, millions of Americans remain unaware of their risk. Improved health literacy has been associated with increased screening and improvement in health outcomes. This study assessed the level of AAA literacy among respondents who participated in a free AAA screening event.
METHODS
Thirteen key words used by vascular surgeons to describe the risk, diagnosis, and treatment options for AAA were extracted from the screening tool used by the nation's largest provider of free AAA diagnostic services, AAAneurysm Outreach. The National Institutes of Health recommends readability of patient education materials to be at the sixth-grade level, but a readability analysis of these words placed them at a grade level of 14.6. A self-administrated questionnaire was developed that allowed respondents to compare each of the extracted words with a definitionally correct or incorrect word that reflected a sixth-grade readability score. These scores were then compared with the available demographics.
RESULTS
There were 570 completed questionnaires. Of the participants, 57.6% were female, 61.4% were 60 and above, and 32.6% were veterans. The average number of correct answers was 9.31 out of 13 (72% correct). Only 4.7% answered all questions correctly, with 29.1% missing five or more answers. The most frequently missed words were asymptomatic, screening, and cholesterol (56.5%, 44%, and 41.4% incorrect, respectively). The most frequently known terms were abdominal, diagnosis, and genetic (96%, 95.3%, and 91.9% correct, respectively). The remaining words fell between these extremes. Those aged 60 and above scored significantly lower than younger respondents (P < .0001). A post hoc power analysis indicated that the power to detect the obtained effects of age at the .05 level was greater than 0.95. Gender and veteran status did not produce any significant differences.
CONCLUSIONS
These data suggest an important communication gap between the words used by clinicians to describe the risks, diagnostic results, and treatment options of AAA and the targeted at-risk population, especially those 60 years and older.
Topics: Aortic Aneurysm, Abdominal; Comprehension; Female; Health Literacy; Humans; Male; Mass Screening; Middle Aged; Retrospective Studies; Self Report; Terminology as Topic
PubMed: 31204214
DOI: 10.1016/j.jvs.2019.03.063 -
Genetics in Medicine : Official Journal... May 2024Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been...
PURPOSE
Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively.
METHODS
ES, GS, epigenetic signatures, and long-read sequencing diagnoses were assessed in 74 trios with at least moderate ID.
RESULTS
The ES diagnostic yield was 42 of 74 (57%). GS diagnoses were made in 9 of 32 (28%) ES-unresolved families. Repeated ES with a contemporary pipeline on the GS-diagnosed families identified 8 of 9 single-nucleotide variations/copy-number variations undetected in older ES, confirming a GS-unique diagnostic rate of 1 in 32 (3%). Episignatures contributed diagnostic information in 9% with GS corroboration in 1 of 32 (3%) and diagnostic clues in 2 of 32 (6%). A genetic etiology for ID was detected in 51 of 74 (69%) families. Twelve candidate disease genes were identified. Contemporary ES followed by GS cost US$4976 (95% CI: $3704; $6969) per diagnosis and first-line GS at a cost of $7062 (95% CI: $6210; $8475) per diagnosis.
CONCLUSION
Performing GS only in ID trios would be cost equivalent to ES if GS were available at $2435, about a 60% reduction from current prices. This study demonstrates that first-line GS achieves higher diagnostic rate than contemporary ES but at a higher cost.
Topics: Humans; Intellectual Disability; Male; Female; Exome; Exome Sequencing; Cohort Studies; Genetic Testing; Whole Genome Sequencing; Child; Genome, Human; DNA Copy Number Variations; Polymorphism, Single Nucleotide; Child, Preschool
PubMed: 38258669
DOI: 10.1016/j.gim.2024.101076 -
CA: a Cancer Journal For Clinicians 2014After a comprehensive review of the evidence, the United States Preventive Services Task Force recently endorsed screening with low-dose computed tomography as an early... (Review)
Review
After a comprehensive review of the evidence, the United States Preventive Services Task Force recently endorsed screening with low-dose computed tomography as an early detection approach that has the potential to significantly reduce deaths due to lung cancer. Prudent implementation of lung cancer screening as a high-quality preventive health service is a complex challenge. The clinical evaluation and management of high-risk cohorts in the absence of symptoms mandates an approach that differs significantly from that of symptom-detected lung cancer. As with other cancer screenings, it is essential to provide to informed at-risk individuals a safe, high-quality, cost-effective, and accessible service. In this review, the components of a successful screening program are discussed as we begin to disseminate lung cancer screening as a national resource to improve outcomes with this lethal cancer. This information about lung cancer screening will assist clinicians with communications about the potential benefits and harms of this service for high-risk individuals considering participation in the screening process.
Topics: Cost-Benefit Analysis; Early Detection of Cancer; Evidence-Based Medicine; Humans; Lung Neoplasms; Mass Screening; Physician's Role; Physicians, Primary Care; Quality of Life; Radiation Dosage; Risk Assessment; Smoking Cessation; Tomography, Spiral Computed; United States
PubMed: 24976072
DOI: 10.3322/caac.21239 -
European Journal of Human Genetics :... Feb 2022Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to... (Review)
Review
Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to inform patient management. More than 20 studies totalling over 1500 patients from diverse healthcare settings worldwide have now been published, forming a compelling evidence base for healthcare system implementation. We review the reported diagnostic and clinical outcomes, as well as broader evaluations of family and professional experiences, cost effectiveness, implementation challenges and bioethical issues arising from rapid testing. As rapid genomic testing transitions from the research to the healthcare setting to become a 'standard of care' test, there is a need to develop effective service delivery models to support scalability at both the laboratory and clinical level and promote equity of access, prompt test initiation, integrated multidisciplinary input and holistic family support. Harnessing the high level of professional engagement with rapid genomic testing programmes will continue to drive innovation and adoption, while close integration with emerging precision medicine approaches will be necessary to deliver on the promise of reduced infant and child mortality.
Topics: Child; Critical Illness; Delivery of Health Care; Genetic Testing; Humans; Infant; Infant, Newborn; Standard of Care
PubMed: 34744166
DOI: 10.1038/s41431-021-00990-y -
Current Opinion in Pediatrics Dec 2021A single genetic diagnosis, especially from the analysis of a limited number of genes, may not signal the end of a diagnostic odyssey. When a patient with a genetic... (Review)
Review
PURPOSE OF REVIEW
A single genetic diagnosis, especially from the analysis of a limited number of genes, may not signal the end of a diagnostic odyssey. When a patient with a genetic syndrome presents with symptoms that are not usually associated with their disease phenotype, additional genetic testing is warranted.
RECENT FINDINGS
Although multiple co-existing genetic diagnoses may sound unlikely, many recent studies and case reports have demonstrated that this scenario is more common than expected. Studies involving whole exome and genome sequencing have identified a frequency of multiple genetic diagnoses and have identified clinical findings that make a second diagnosis more likely, which we have seen reflected in recent cases from our own clinic and consult service. These include multisystem disease, consanguinity, well described aneuploidies with rare or new symptoms, and complex structural chromosomal anomalies which may include multiple chromosomes and breakpoints that disrupt gene function.
SUMMARY
Identifying a second diagnosis can have vast implications for patient management and counseling. Patients can be followed with appropriate medical screening and early interventions to support optimal child development. Furthermore, the patient's family can be impacted by ending the diagnostic odyssey, providing testing for other at-risk family members, and offering prenatal options.
Topics: Exome; Family; Female; Genetic Testing; Humans; Phenotype; Pregnancy; Exome Sequencing
PubMed: 34654050
DOI: 10.1097/MOP.0000000000001072 -
Clinical Chemistry and Laboratory... Jun 2015The current failure to evidence any link between laboratory tests, clinical decision-making and patient outcomes, and the scarcity of financial resources affecting... (Review)
Review
The current failure to evidence any link between laboratory tests, clinical decision-making and patient outcomes, and the scarcity of financial resources affecting healthcare systems worldwide, have put further pressure on the organization and delivery of laboratory services. Consolidation, merger, and laboratory downsizing have been driven by the need to deliver economies of scale and cut costs per test while boosting productivity. Distorted economics, based on payment models rewarding volume and efficiency rather than quality and clinical effectiveness, have underpinned the entrance of clinical laboratories into the production industry thus forcing them to relinquish their original mission of providing medical services. The sea change in laboratory medicine in recent years, with the introduction of ever newer and ever more complex tests, including 'omics', which impact on clinical decision-making, should encourage clinical laboratories to return to their original mission as long as payments models are changed. Rather than being considered solely in terms of costs, diagnostic testing must be seen in the context of an entire hospital stay or an overall payment for a care pathway: the testing process should be conceived as a part of the patient's entire journey.
Topics: Clinical Laboratory Services; Hospitals; Humans; Industry
PubMed: 25405721
DOI: 10.1515/cclm-2014-1007