-
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 -
Autism Research : Official Journal of... Jul 2020Autism research is heavily skewed toward western high-income countries. Culturally appropriate screening and diagnostic instruments for autism are lacking in most low-... (Review)
Review
Autism research is heavily skewed toward western high-income countries. Culturally appropriate screening and diagnostic instruments for autism are lacking in most low- and middle-income settings where the majority of the global autism population lives. To date, a clear overview of the possible cultural and contextual factors that may affect the process of identifying and diagnosing individuals with autism spectrum disorders (ASD) is missing. This study aims to outline these factors by proposing a conceptual framework. A multidisciplinary review approach was applied to inform the development of the conceptual framework, combining a systematic review of the relevant autism research literature with a wider literature search spanning key texts in global mental health, cultural psychiatry, cross-cultural psychology, and intellectual disability research. The resulting conceptual framework considers the identification, help-seeking, and diagnostic process at four interrelated levels: (a) the expression; (b) recognition; (c) interpretation; and (d) reporting of autism symptoms, and describes the cultural and contextual factors associated with each of these levels, including cultural norms of typical and atypical behavior, culture-specific approaches to parenting, mental health literacy, cultural beliefs, attitudes and stigma, as well as the affordability, availability, accessibility, and acceptability of services. This framework, mapping out the cultural and contextual factors that can affect the identification, help-seeking, and diagnosis of ASD may function as a springboard for the development of culturally appropriate autism screening and diagnostic instruments, and inform future cross-cultural autism research directions. The framework also has relevance for clinicians and policy makers aiming to improve support for underserved autism populations worldwide. Autism Res 2020, 13: 1029-1050. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The vast majority of autism research is conducted in western high-income settings. We therefore know relatively little of how culture and context can affect the identification, help-seeking, and diagnosis of autism across the globe. This study synthesizes what is known from the autism research literature and a broader literature and maps out how culture and context may affect (a) the expression, (b) recognition, (c) interpretation, and (d) reporting of autism symptoms.
Topics: Autism Spectrum Disorder; Humans; Mass Screening; Parenting; Surveys and Questionnaires
PubMed: 32083402
DOI: 10.1002/aur.2276 -
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 -
Canadian Association of Radiologists... Aug 2023Cancer screening is invaluable for early detection of disease, including for breast and lung cancer. Through early detection, cancer treatment can be commenced prior to... (Review)
Review
Cancer screening is invaluable for early detection of disease, including for breast and lung cancer. Through early detection, cancer treatment can be commenced prior to the development of advanced stage disease, significantly reducing morbidity and mortality. However, eligible patients may face barriers when accessing screening services, and some groups may be more disproportionately affected than others. This review aims to describe some of the most prominent barriers that at-risk populations may face when accessing image-based cancer screening services in Canada. Characterizing these barriers would be helpful in determining the best strategies to increase uptake to these screening services and, consequently, improve health equity.
Topics: Humans; Risk Factors; Early Detection of Cancer; Canada; Lung Neoplasms; Mass Screening
PubMed: 36573884
DOI: 10.1177/08465371221147307 -
Journal of Medical Genetics Aug 2022The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories... (Review)
Review
The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based and () tumour testing in ovarian cancers. This document was drafted by the members of the Canadian College of Medical Geneticists (CCMG) somatic BRCA Ad Hoc Working Group, and representatives from the Canadian Association of Pathologists. The document was circulated to the CCMG members for comment. Following incorporation of feedback, this document has been approved by the CCMG board of directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. The current CCMG Practice Guidelines were developed as a resource for clinical laboratories in Canada; however, they are not inclusive of all information laboratories should consider in the validation and use of NGS for tumour testing in ovarian cancers.
Topics: BRCA1 Protein; BRCA2 Protein; Canada; Carcinoma, Ovarian Epithelial; Clinical Laboratory Services; Female; Genetic Testing; Germ-Line Mutation; High-Throughput Nucleotide Sequencing; Humans; Ovarian Neoplasms
PubMed: 35393334
DOI: 10.1136/jmedgenet-2021-108238 -
Blood Jul 2017As our technological capacities improve, genomic testing is increasingly integrating into patient care. The field of clinical hematology is no exception. Genomic testing... (Review)
Review
As our technological capacities improve, genomic testing is increasingly integrating into patient care. The field of clinical hematology is no exception. Genomic testing carries great promise, but several ethical issues must be considered whenever such testing is performed. This review addresses these ethical considerations, including issues surrounding informed consent and the uncertainty of the results of genomic testing; the challenge of incidental findings; and possible inequities in access to and benefit from such testing. Genomic testing is likely to transform the practice of both benign and malignant hematology, but clinicians must carefully consider these core ethical issues in order to make the most of this exciting and evolving technology.
Topics: Bioethics; Ethics; Genetic Testing; Hematologic Neoplasms; Humans
PubMed: 28600340
DOI: 10.1182/blood-2017-01-734558 -
Sexually Transmitted Infections Mar 2022Women and girls are relatively under-represented across the HIV treatment cascade. Two conditions unique to women, pregnancy and cervical cancer/dysplasia, share a... (Review)
Review
BACKGROUND
Women and girls are relatively under-represented across the HIV treatment cascade. Two conditions unique to women, pregnancy and cervical cancer/dysplasia, share a common acquisition mode with HIV. This scoping review aimed to explore HIV testing practices in voluntary termination of pregnancy (TOP) and colposcopy services.
METHODS
The scoping review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews. We searched articles published up to 20 December 2020 using three electronic databases (PubMed/Medline, Embase, Google Scholar) and including the keywords "HIV Testing", "Abortion, Induced", "Colposcopy", "HIV screen*" and "termination of pregnancy".
RESULTS
A total of 1496 articles were identified, of which 55 met the inclusion criteria. We included studies providing background HIV prevalence in addition to prevalence in the study population and studies of women seeking TOP rather than presenting with TOP complications. This limited our review to high-income, low HIV prevalence settings. We observed two study phases: studies pre-antiretroviral therapy (ART) using unlinked anonymous testing data and examining HIV risk factors associated with positive HIV tests and studies post-ART using routine testing data and exploring HIV testing uptake. HIV prevalence was estimated at >0.2% in most TOP settings and >1% (range 1.7%-11.4%) in colposcopy services. Many TOP providers did not have local HIV testing policies and HIV testing was not mentioned in many specialist guidelines. Testing uptake was 49%-96% in TOP and 23%-75% in colposcopy services.
CONCLUSION
Given the estimated HIV prevalence of >0.1% among women attending TOP and colposcopy services, HIV testing would be economically feasible to perform in high-income settings. Explicit testing policies are frequently lacking in these two settings, both at the local level and in specialist guidelines. Offering HIV testing regardless of risk factors could normalise testing, reduce late HIV presentation and create an opportunity for preventive counselling.
Topics: Abortion, Induced; Colposcopy; Female; HIV Infections; HIV Testing; Humans; Mass Screening; Pregnancy
PubMed: 34544889
DOI: 10.1136/sextrans-2021-055111 -
The Journal of Thoracic and... Jan 2022
Topics: Aorta, Thoracic; Aortic Aneurysm, Thoracic; Aortic Diseases; Early Diagnosis; Genetic Testing; Humans; Mass Screening; Medical History Taking; Preventive Health Services; Time-to-Treatment
PubMed: 33648726
DOI: 10.1016/j.jtcvs.2021.01.075 -
Journal of Clinical Microbiology Jul 2014In October 2001, the first disseminated biological warfare attack was perpetrated on American soil. Initially, a few clinical microbiology laboratories were testing... (Review)
Review
In October 2001, the first disseminated biological warfare attack was perpetrated on American soil. Initially, a few clinical microbiology laboratories were testing specimens from acutely ill patients and also being asked to test nasal swabs from the potentially exposed. Soon after, a significant number of clinical microbiology and public health laboratories received similar requests to test the worried well or evaluate potentially contaminated mail or environmental materials, sometimes from their own break rooms. The role of the clinical and public health microbiology laboratory in response to a select agent event or act of bioterrorism is reviewed.
Topics: Biological Warfare Agents; Bioterrorism; Clinical Laboratory Techniques; Diagnostic Services; Humans; United States
PubMed: 24648550
DOI: 10.1128/JCM.00359-14 -
Clinical Chemistry and Laboratory... Mar 2023The EU Diagnostic Device Regulation (IVDR) aims for transparent risk-and purpose-based validation of diagnostic devices, traceability of results to uniquely identified... (Review)
Review
ISO 15189 is a sufficient instrument to guarantee high-quality manufacture of laboratory developed tests for in-house-use conform requirements of the European -Diagnostics Regulation.
The EU Diagnostic Device Regulation (IVDR) aims for transparent risk-and purpose-based validation of diagnostic devices, traceability of results to uniquely identified devices, and post-market surveillance. The IVDR regulates design, manufacture and putting into use of devices, but not medical services using these devices. In the absence of suitable commercial devices, the laboratory can resort to laboratory-developed tests (LDT) for in-house use. Documentary obligations (IVDR Art 5.5), the performance and safety specifications of ANNEX I, and development and manufacture under an ISO 15189-equivalent quality system apply. LDTs serve specific clinical needs, often for low volume niche applications, or correspond to the translational phase of new tests and treatments, often extremely relevant for patient care. As some commercial tests may disappear with the IVDR roll-out, many will require urgent LDT replacement. The workload will also depend on which modifications to commercial tests turns them into an LDT, and on how national legislators and competent authorities (CA) will handle new competences and responsibilities. We discuss appropriate interpretation of ISO 15189 to cover IVDR requirements. Selected cases illustrate LDT implementation covering medical needs with commensurate management of risk emanating from intended use and/or design of devices. Unintended collateral damage of the IVDR comprises loss of non-profitable niche applications, increases of costs and wasted resources, and migration of innovative research to more cost-efficient environments. Taking into account local specifics, the legislative framework should reduce the burden on and associated opportunity costs for the health care system, by making diligent use of existing frameworks.
Topics: Humans; Reagent Kits, Diagnostic; European Union; Clinical Laboratory Services
PubMed: 36716120
DOI: 10.1515/cclm-2023-0045