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The Lancet. Global Health Nov 2021
Topics: Delivery of Health Care; Diagnostic Services; Drugs, Essential; Guidelines as Topic; Humans; World Health Organization
PubMed: 34678179
DOI: 10.1016/S2214-109X(21)00467-8 -
European Journal of Human Genetics :... Jul 2023The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective... (Review)
Review
The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Associated tissue fragility affects multiple organ systems, increasing the risk of blood vessel dissection and rupture, with potentially fatal consequences. The diagnosis of vEDS has improved with advances in genetic testing, however this is most often suspected following an acute event. We provide data on the clinical features of vEDS for 180 patients (full cohort) seen in our service with confirmed molecular diagnoses. Increased awareness of this rare condition will prompt genetic testing essential to confirm the diagnosis. Outcomes are improved by early diagnosis followed by appropriate management. Fragile connective tissues make invasive procedures potentially dangerous, particularly in an emergency setting. Lifestyle advice from a young age can help acceptance and understanding of the diagnosis and inform choices. There is currently limited evidence for the use of drug therapy to reduce vascular events. We report on the incidence of vascular events in 126 patients (statistical analysis cohort) in our care and the use of medication. Our retrospective data showed that those patients on a long-term angiotensin II receptor blocker and/or beta-blocker had fewer vascular events than those not on cardiac medication who received the same lifestyle and emergency care advice.
Topics: Humans; Ehlers-Danlos Syndrome, Type IV; Retrospective Studies; Ehlers-Danlos Syndrome; Genetic Testing; United Kingdom; Collagen Type III
PubMed: 36977837
DOI: 10.1038/s41431-023-01343-7 -
Current Opinion in Infectious Diseases Aug 2023Nucleic acid sequence-based organism identification plays an important role in the diagnosis and management of transplant and cancer-associated infectious diseases.... (Review)
Review
PURPOSE OF REVIEW
Nucleic acid sequence-based organism identification plays an important role in the diagnosis and management of transplant and cancer-associated infectious diseases. Here, we provide a high-level overview of advanced sequencing technologies, discuss test performance, and highlight unmet research needs with a focus on immunocompromised hosts.
RECENT FINDINGS
Next-generation sequencing (NGS) technologies are powerful tools with a growing role in managing immunocompromised patients with suspected infection. Targeted NGS (tNGS) can identify pathogens directly from patient specimens, especially for mixed samples, and has been used to detect resistance mutations in transplant-related viruses (e.g. CMV). Whole-genome sequencing (WGS) is increasingly used for outbreak investigations and infection control. Metagenomic NGS (mNGS) is useful for hypothesis-free testing and can simultaneously assess pathogens and host response to infection.
SUMMARY
NGS testing increases diagnostic yield relative to standard culture and Sanger sequencing but may be limited by high cost, turnaround times, and detection of unexpected organisms or commensals of uncertain significance. Close collaboration with the clinical microbiology laboratory and infectious diseases is recommended when NGS testing is considered. Additional research is required to understand which immunocompromised patients are most likely to benefit from NGS testing, and when testing should ideally be performed.
Topics: Humans; Precision Medicine; Virus Diseases; High-Throughput Nucleotide Sequencing; Clinical Laboratory Services; Communicable Diseases
PubMed: 37431553
DOI: 10.1097/QCO.0000000000000936 -
Bulletin of the World Health... Jun 2023To implement and evaluate a large-scale online cervical cancer screening programme in Hubei Province, China, supported by artificial intelligence and delivered by...
OBJECTIVE
To implement and evaluate a large-scale online cervical cancer screening programme in Hubei Province, China, supported by artificial intelligence and delivered by trained health workers.
METHODS
The screening programme, which started in 2017, used four types of health worker: sampling health workers, slide preparation technicians, diagnostic health workers and cytopathologists. Sampling health workers took samples from the women on site; slide preparation technicians prepared slides for liquid-based cytology; diagnostic health workers identified negative samples and classified positive samples based on the Bethesda System after cytological assessment using online artificial intelligence; and cytopathologists reviewed positive samples and signed reports of the results online. The programme used fully automated scanners, online artificial intelligence, an online screening management platform, and mobile telephone devices to provide screening services. We evaluated the sustainability, performance and cost of the programme.
RESULTS
From 2017 to 2021, 1 518 972 women in 16 cities in Hubei Province participated in the programme, of whom 1 474 788 (97.09%) had valid samples for the screening. Of the 86 648 women whose samples were positive, 30 486 required a biopsy but only 19 495 had one. The biopsy showed that 2785 women had precancerous lesions and 191 had invasive cancers. The cost of screening was 6.31 United States dollars (US$) per woman for the public payer: US$ 1.03 administrative costs and US$ 5.28 online screening costs.
CONCLUSION
Cervical cancer screening using artificial intelligence in Hubei Province provided a low-cost, accessible and effective service, which will contribute to achieving universal cervical cancer screening coverage in China.
Topics: Female; Humans; Uterine Cervical Neoplasms; Uterine Cervical Dysplasia; Vaginal Smears; Early Detection of Cancer; Artificial Intelligence; China; Mass Screening
PubMed: 37265676
DOI: 10.2471/BLT.22.289061 -
Infectious Diseases of Poverty Feb 2020Diagnostics are essential for identifying and controlling diseases. However, limited access to diagnostics hinders public health efforts in many settings. Social... (Review)
Review
BACKGROUND
Diagnostics are essential for identifying and controlling diseases. However, limited access to diagnostics hinders public health efforts in many settings. Social innovation may provide a framework for expanding access to diagnostics in the global south. Here social innovation is defined as implementing a known public health tool via a novel, community-driven technique.
MAIN BODY
In this article, we discuss three diverse cases that show the potential for using social innovation in diagnostics. The cases chosen for inclusion here demonstrate the importance of social innovation in diagnostics across different geographic, cultural, and health system contexts. They include malaria testing via schools in Malawi, cervical human papillomavirus (HPV) sample self-collection in Peru, and crowdsourcing human immunodeficiency virus (HIV) testing in China. For each case, we present the public health problem and the impact of using social innovation to increase accessibility of diagnostics. We discuss implications of each diagnostic approach and the importance of social innovation in creating these potential solutions. We argue that social innovation is useful in improving the delivery of essential diagnostic tools in low- and middle-income countries.
CONCLUSIONS
Interventions in Malawi, Peru, and China suggest social innovation increases uptake of diagnostics. The same tools and principles utilized in these cases can be adapted for use in other contexts. Such diagnostic innovations may help improve identification of and linkage to care for many diseases. The approach presents a unique opportunity to better address public health issues and increase accessibility in LMIC health systems.
Topics: Diagnostic Services; Humans; Organizational Innovation; Public Health
PubMed: 32070433
DOI: 10.1186/s40249-020-0633-6 -
International Journal of Laboratory... Jun 2023Contemporary full spectrum or "spectral" flow cytometry is a recently developed technology that allows for high-dimensional flow cytometric analyses of cells and... (Review)
Review
Contemporary full spectrum or "spectral" flow cytometry is a recently developed technology that allows for high-dimensional flow cytometric analyses of cells and particles in suspension. This single-cell technology has gained popularity in research settings because it can conservatively detect 35 or more antigens simultaneously in a single-tube assay format. Recently, spectral flow cytometry has obtained regulatory approval for use as an in vitro diagnostic device in China and Europe, enabling use of this technology in some clinical flow cytometry laboratories. The purpose of this review is to describe the basic principles of conventional and spectral flow cytometry, contrasting these two technologies. To illustrate the analytic power of spectral flow cytometry, we provide an example of spectral flow cytometry data analyses and the use of a machine learning algorithm to harvest the vast amount of information contained within large spectral flow cytometry datasets. Finally, we discuss the advantages of spectral flow cytometry adoption in clinical laboratories and preliminary studies comparing the performance of this technology relative to conventional flow cytometers that are currently used in clinical laboratory environments.
Topics: Humans; Flow Cytometry; Laboratories, Clinical; Clinical Laboratory Services; Algorithms; Europe
PubMed: 37211417
DOI: 10.1111/ijlh.14098 -
Neurology Sep 2019
Topics: Early Diagnosis; Genetic Testing; Humans; Huntingtin Protein; Huntington Disease
PubMed: 31371566
DOI: 10.1212/WNL.0000000000008054 -
The New Zealand Medical Journal Jul 2023Positive screening tests require investigation, usually by specialists. Specialist services are known to be limited. The planning of screening programmes must first...
Positive screening tests require investigation, usually by specialists. Specialist services are known to be limited. The planning of screening programmes must first include a model of existing diagnostic and follow-up services of symptomatic patients so that the added impact of the extra referrals required for screening can be estimated. This is fundamental to the planning of screening programmes; inevitable diagnostic delay, impeded access to services for symptomatic patients, and resulting harm or increased mortality from disease can thus be avoided.
Topics: Humans; Early Detection of Cancer; Delayed Diagnosis; New Zealand; Mass Screening; Neoplasms
PubMed: 37414081
DOI: No ID Found -
Birth Defects Research Mar 2020Pregnant patients should be offered the option of prenatal genetic screening and diagnostic testing. The type of screening and testing offered to a patient may depend on... (Review)
Review
Pregnant patients should be offered the option of prenatal genetic screening and diagnostic testing. The type of screening and testing offered to a patient may depend on various factors including but not limited to age, family history, fetal findings, exposures, and patient preferences. Prenatal screening is available for a variety of genetic conditions including aneuploidy, congenital abnormalities, and carrier status. Diagnostic testing options include karyotype, prenatal microarray, as well as next-generation sequencing. The various options differ in methodology, accuracy, timing and indication for testing, and information they provide. Given that the technologies related to prenatal testing are rapidly evolving and improving, the array of available screening and testing modalities are increasing. This article reviews the current offerings in prenatal screening and diagnosis.
Topics: Aneuploidy; Female; Genetic Testing; Humans; Mass Screening; Pregnancy; Prenatal Diagnosis
PubMed: 31633301
DOI: 10.1002/bdr2.1598 -
Nutrients Feb 2020At present, specialized companies offering genetic testing services without the involvement of clinicians are growing; this development is a direct consequence of the... (Review)
Review
At present, specialized companies offering genetic testing services without the involvement of clinicians are growing; this development is a direct consequence of the significant decrease in genotyping and sequencing costs. Online companies offer predictions about the risk of developing complex diseases during one's life course, and they offer suggestions for personal lifestyle. Several companies have been created that provide nutrigenetics services; these companies suggest dietary indications-a central issue in the prevention and etiopathogenesis of specific diseases-based on one's personal genetic background. Dietary patterns are defined on the basis of a limited set of genetic markers. In this article, we analyze the online nutrigenetics services offered by 45 companies worldwide, to obtain an overall picture of the costs, the types of nutritional traits considered and the level of scientific precision of the services proposed. Our analysis clearly highlights the need for specific guidelines, in order to ensure a set of minimum quality standards for the nutrigenetics services offered to the customer.
Topics: Direct-To-Consumer Screening and Testing; Genetic Testing; Guidelines as Topic; Humans; Nutrigenomics
PubMed: 32098227
DOI: 10.3390/nu12020566