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JAMA Pediatrics Feb 2022The number of adolescents who are diagnosed with a genetic disorder is increasing as genome sequencing becomes the standard of clinical diagnostic testing. However, the... (Review)
Review
IMPORTANCE
The number of adolescents who are diagnosed with a genetic disorder is increasing as genome sequencing becomes the standard of clinical diagnostic testing. However, the experience of receiving a diagnosis of a genetic condition has not been extensively studied in adolescents.
OBJECTIVE
To identify how adolescents with a genetic condition engage with genetic or genomic counseling services as well as interpret, adapt to, and experience their diagnosis.
EVIDENCE REVIEW
A literature search of MEDLINE, Embase, CINAHL, and PsycINFO was undertaken. Articles (primary literature, knowledge syntheses, and gray literature) in English that investigated the experiences of adolescents between 10 and 19 years of age who received genetic or genomic counseling were included. Data were extracted from 45 eligible articles and analyzed descriptively.
FINDINGS
A total of 45 studies were included, most of which were quantitative in nature (21 of 45 [47%]) and conducted in the US (n = 13), followed by the UK (n = 8), Australia (n = 8), and Canada (n = 6). A total of 29 distinct monogenic disorders were investigated. Sample sizes ranged from 1 to 930, with a median of 23 participants, and the year of publication ranged from 1977 to 2019. Included studies addressed all aspects of genetic counseling, but a preponderance of articles assessed knowledge about genetic conditions (n = 17) and challenges of communication within families (n = 16). Fewer articles addressed the experiences of adolescents adapting to their genetic conditions (n = 8) and the genetic counseling process (n = 4). Only 1 study addressed any aspect of genetic counseling in relation to genome sequencing.
CONCLUSIONS AND RELEVANCE
This scoping review found that most of the included studies focused on adolescents' knowledge about their genetic condition and communication about genetic risks, whereas fewer studies explored their adaptation to the condition and the genetic counseling process. A systematic reconsideration of the genetic counseling process may be undertaken to provide an evidence-informed health care service that is tailored to the needs of this adolescent population.
Topics: Adolescent; Communication; Female; Genetic Counseling; Genetic Diseases, Inborn; Genetic Testing; Humans; Male
PubMed: 34807246
DOI: 10.1001/jamapediatrics.2021.4290 -
Hematology/oncology Clinics of North... Feb 2024Diagnostic pathology services in low and middle-income countries are often hindered by lack of expertise, equipment, and reagents. However, there are also educational,... (Review)
Review
Diagnostic pathology services in low and middle-income countries are often hindered by lack of expertise, equipment, and reagents. However, there are also educational, cultural, and political decisions, which must be addressed in order to provide these services successfully. In this review, we describe some of the infrastructure barriers that must be overcome and provide 3 examples of implementing molecular testing in Rwanda and Honduras despite initial lack of resources.
Topics: Humans; Developing Countries; Clinical Laboratory Services
PubMed: 37328312
DOI: 10.1016/j.hoc.2023.05.015 -
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 -
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 -
Rinsho Byori. the Japanese Journal of... Jan 2017The topic of this symposium "advancement of biomarkers" focused on biomarkers and laboratory medicine. The following 4 papers were presented: 1. Liver disease diagnoses...
The topic of this symposium "advancement of biomarkers" focused on biomarkers and laboratory medicine. The following 4 papers were presented: 1. Liver disease diagnoses and new biomarkers, 2. Atherosclerosis and new biomarkers, 3. Leukemia biomarkers, and 4. A new inhibitory factor against erythropoietin for diagnosis and assessment of anemia. As these titles suggest, this symposium covered broad fields of medical practice. All presentations demonstrated the marked development of new biomarkers in association with advanced technology along with improved understanding of disease pathologies. These frontier research areas related to biomarkers lead to the expectation of further novel practical biomarkers in the future. Further explora- tion in all fields for biomarker development will be performed, leading to new clinically practical diagnostic tools. Laboratory medicine will further contribute through the development of novel diagnostic technologies. [Review].
Topics: Biomarkers; Clinical Laboratory Services; Humans; Periodicals as Topic
PubMed: 30695515
DOI: No ID Found -
Academic Pediatrics 2015Since 2000, the Children with Special Health Care Needs (CSHCN) Screener (CS) has been widely used nationally, by states, and locally as a standardized and brief... (Review)
Review
Since 2000, the Children with Special Health Care Needs (CSHCN) Screener (CS) has been widely used nationally, by states, and locally as a standardized and brief survey-based method to identify populations of children who experience chronic physical, mental, behavioral, or other conditions and who also require types and amounts of health and related services beyond those routinely used by children. Common questions about the CS include those related to its development and uses; its conceptual framework and potential for under- or overidentification; its ability to stratify CSHCN by complexity of service needs and daily life impacts; and its potential application in clinical settings and comparisons with other identification approaches. This review recaps the development, design, and findings from the use of the CS and synthesizes findings from studies conducted over the past 13 years as well as updated findings on the CS to briefly address the 12 most common questions asked about this tool through technical assistance provided regarding the CS since 2001. Across a range of analyses, the CS consistently identifies a subset of children with chronic conditions who need or use more than a routine type or amount of medical- and health-related services and who share common needs for health care, including care coordination, access to specialized and community-based services, and enhanced family engagement. Scoring algorithms exist to stratify CSHCN by complexity of needs and higher costs of care. Combining CS data with clinical diagnostic code algorithms may enhance capacity to further identify meaningful subgroups. Clinical application is most suited for identifying and characterizing populations of patients and assessing quality and system improvement impacts for children with a broad range of chronic conditions. Other clinical applications require further implementation research. Use of the CS in clinical settings is limited because integration of standardized patient-reported health information is not yet common practice in most settings or in electronic health records. The CS continues to demonstrate validity as a non-condition-specific, population-based tool that addresses many of the limits of condition or diagnosis checklists, including the relatively low prevalence of many individual conditions and substantial within-diagnosis variations and across-diagnoses similarities in health service needs, functioning, and quality of care.
Topics: Adolescent; Child; Child Health Services; Child, Preschool; Chronic Disease; Disabled Children; Humans; Infant; Infant, Newborn; Mass Screening; Needs Assessment; Surveys and Questionnaires
PubMed: 25486969
DOI: 10.1016/j.acap.2014.10.003 -
Autism Research : Official Journal of... Sep 2020Diagnostic genetic testing is recommended for children with autism spectrum disorder and other neurodevelopmental disorders. One approach to improve access to genetic...
Diagnostic genetic testing is recommended for children with autism spectrum disorder and other neurodevelopmental disorders. One approach to improve access to genetic testing is to offer it on the inpatient child and adolescent psychiatry (CAP) service. We provided medical genetics education to CAP fellows and retrospectively compared the genetic testing rates and diagnostic yield pre- and post-education. We compared demographics to similar patients who received testing on other clinical services and assessed rates of outpatient genetics follow-up post-discharge. The genetic testing rate on the inpatient CAP service was 1.6% before the educational intervention and 10.7% afterward. Genetic risk factors were identified in 4.3% of inpatients. However, 34.8% had variants of unknown significance. 39.1% of patients who received genetic testing while inpatients were underrepresented minorities, compared to 7.7% of inpatients who received genetic testing from other clinical services. 43.5% of patients were lost to outpatient genetics follow-up. We have demonstrated that it is feasible to provide medical genetics education to CAP fellows on an inpatient service, which may improve genetic testing rates. This preliminary evidence also suggests that genetic testing for inpatients may identify variants of unknown significance instead of well-known neurodevelopmental disorder risk variants. Genetic testing on an inpatient CAP service may also improve access to genetic services for underrepresented minorities, but assuring outpatient follow-up can be challenging. LAY SUMMARY: Genetic testing is recommended for children with autism and related developmental conditions. We provided genetic testing to a group of these children who were in a psychiatric hospital by teaching their doctors how it can be helpful. We identified a genetic risk factor in a small percentage of children and a possible genetic risk factor in a large percentage of children. However, many children did not end up receiving their genetic test results once they left the hospital. These results tell us that the psychiatric hospital may be a good place for children with autism and behavioral problems to get genetic testing, but that it is really important that doctors assure follow-up is feasible for all patients to receive their genetic test results once they leave the hospital. Autism Res 2020, 13: 1450-1464. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.
Topics: Adolescent; Adolescent Psychiatry; Aftercare; Autistic Disorder; Child; Child Psychiatry; Feasibility Studies; Female; Genetic Testing; Humans; Inpatients; Male; Neurodevelopmental Disorders; Patient Discharge; Retrospective Studies
PubMed: 32662193
DOI: 10.1002/aur.2338 -
Diagnostic Microbiology and Infectious... May 2021Diagnostic microbiology services form a critical component of the response to infectious disease outbreaks. Like previous respiratory virus pandemics, the COVID-19...
Diagnostic microbiology services form a critical component of the response to infectious disease outbreaks. Like previous respiratory virus pandemics, the COVID-19 pandemic has placed significant strains on the standing capacity of laboratories around the world. In this case study, we describe the surge response required by our laboratory to meet the fluctuating demand for SARS-CoV-2 in our regional pathology service in Western Sydney, Australia between March and May 2020. While the overall number of SARS-CoV-2 PCR positive cases was relatively low compared to other Australian local health districts, testing numbers were highly unpredictable and changed on a weekly basis as local outbreaks were detected. As with other laboratories, numerous other challenges were also faced during this period, including the requirement to introduce a new and unaccredited diagnostic PCR assay for SARS-CoV-2, local and global shortages of reagents for sampling and sample processing, and a significant institutional SARS-CoV-2 outbreak in our laboratory catchment area. A successful service delivery during this period could only be maintained by a dynamic whole-of-laboratory and organizational response including (1) operational changes to the hours of service and the expansion of diagnostic testing at our laboratory site and other sites within our organization (2) careful management of specialist staff and re-training and recruitment of additional staff (3) changes to laboratory workflows to improve SARS-CoV-2 PCR test turnaround time and to accommodate limits to precious laboratory reagents; (4) clear communication within our laboratory and the NSW Health Pathology organization; and (5) collaborative co-ordination and support by NSW Health Pathology.
Topics: Australia; COVID-19; COVID-19 Testing; Clinical Laboratory Services; Humans; Laboratories; Medical Laboratory Personnel; Microbiology; Polymerase Chain Reaction; Time Factors
PubMed: 33486387
DOI: 10.1016/j.diagmicrobio.2021.115309 -
Journal of Family Psychology : JFP :... Jun 2022Reports an error in "High sensitivity and specificity screening for clinically significant intimate partner violence" by Richard E. Heyman, Katherine J. W. Baucom, Shu...
Reports an error in "High sensitivity and specificity screening for clinically significant intimate partner violence" by Richard E. Heyman, Katherine J. W. Baucom, Shu Xu, Amy M. Smith Slep, Jeffery D. Snarr, Heather M. Foran, Michael F. Lorber, Alexandra K. Wojda and David J. Linkh (, 2021[Feb], Vol 35[1], 80-91). In the article, the affiliation of Heather M. Foran was incorrectly listed as "Family Translational Research Group, New York University." Her correct affiliation is "Institute for Psychology, University of Klagenfurt, and Institute for Psychology, University of Braunschweig." In addition, there were two errors in Table 3 whereby the last row of column 1 should have been labeled "Any of the two items" rather than "Both items," and the final subheading should have read "Female → Male psychological CS-IPV (Male report) rather than "Male → Female psychological CS-IPV (Male report)." Finally, in the Supplemental Material, the second item of the "Screener for Clinically Significant IPV-Psychological" questionnaire should have been deleted. The online version of this article has been corrected. (The following abstract of the original article appeared in record 2020-51524-001). The U.S. Preventive Services Task Force has recommended that clinicians screen patients for intimate partner violence (IPV). This article aims to develop and test the first screeners for clinically significant physical and psychological IPV (i.e., acts meeting criteria in the International Classification of Diseases (11th ed.; ICD-11; World Health Organization, 2019) and the (5th ed.; DSM-5; American Psychiatric Association, 2013). The goal was to derive screeners that (1) are maximally brief, while still achieving high sensitivity and specificity; (2) assess perpetration and victimization when either men or women are reporting; and (3) use ICD-11/ criteria as the reference standard. Random samples of active duty service members at 82 installations worldwide were obtained via e-mail invitation (2006: = 54,543; 2008: = 48,909); their response rates were excellent for long general population surveys with no payment (2006: 44.7%, 2008: 49.0%). The population of spouses at the participating installation was invited by mailed postcard (2006: = 19,722; 2008: = 12,127; response rates-2006: 12.3%, 2008: 10.8%). Clinically significant physical intimate partner violence can be effectively screened with as few as four items, with sensitivities > 90% and specificities > 95%; clinically significant psychological intimate partner violence can be screened with two items. Men and women can be screened with equivalent accuracy, as can those committing the violence and those victimized by it. (PsycInfo Database Record (c) 2022 APA, all rights reserved).
Topics: Bullying; Crime Victims; Female; Humans; Intimate Partner Violence; Male; Mass Screening; Surveys and Questionnaires
PubMed: 35311319
DOI: 10.1037/fam0000974 -
Orphanet Journal of Rare Diseases Jun 2016The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services...
BACKGROUND
The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services delivered through Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinical genetic care for 28 years and it serves a population of 2.5 million people across a geographical area of 2.5milion Km(2). Within this context, GSWA has established a clinically integrated genomic diagnostic platform in partnership with other public health system managers and service providers, including but not limited to the Office of Population Health Genomics, Diagnostic Genomics (PathWest Laboratories) and with executive level support from the Department of Health. Herein we describe report presents the components of this service that are most relevant to the heterogeneity of paediatric clinical genetic care.
RESULTS
Briefly the platform : i) offers multiple options including non-genetic testing; monogenic and genomic (targeted in silico filtered and whole exome) analysis; and matchmaking; ii) is delivered in a patient-centric manner that is resonant with the patient journey, it has multiple points for entry, exit and re-entry to allow people access to information they can use, when they want to receive it; iii) is synchronous with precision phenotyping methods; iv) captures new knowledge, including multiple expert review; v) is integrated with current translational genomic research activities and best practice; and vi) is designed for flexibility for interactive generation of, and integration with, clinical research for diagnostics, community engagement, policy and models of care.
CONCLUSION
The RUDDS has been established as part of routine clinical genetic services and is thus sustainable, equitably managed and seeks to translate new knowledge into efficient diagnostics and improved health for the whole community.
Topics: Australia; Delivery of Health Care; Diagnostic Services; Genomics; High-Throughput Nucleotide Sequencing; Humans; Rare Diseases
PubMed: 27287197
DOI: 10.1186/s13023-016-0462-7