RESUMO
BACKGROUND: The GeneXpert diagnostic platform from the US based company Cepheid is an automated molecular diagnostic device that performs sample preparation and pathogen detection within a single cartridge-based assay. GeneXpert devices can enable diagnosis at the district level without the need for fully equipped clinical laboratories, are simple to use, and offer rapid results. Due to these characteristics, the platform is now widely used in low- and middle-income countries for diagnosis of diseases such as TB and HIV. Assays for SARS-CoV-2 are also being rolled out. We aimed to quantify public sector investments in the development of the GeneXpert platform and Cepheid's suite of cartridge-based assays. METHODS: Public funding data were collected from the proprietor company's financial filings, grant databases, review of historical literature concerning key laboratories and researchers, and contacting key public sector entities involved in the technology's development. The value of research and development (R&D) tax credits was estimated based on financial filings. RESULTS: Total public investments in the development of the GeneXpert technology were estimated to be $252 million, including >$11 million in funding for work in public laboratories leading to the first commercial product, $56 million in grants from the National Institutes of Health, $73 million from other U.S. government departments, $67 million in R&D tax credits, $38 million in funding from non-profit and philanthropic organizations, and $9.6 million in small business 'springboard' grants. CONCLUSION: The public sector has invested over $250 million in the development of both the underlying technologies and the GeneXpert diagnostic platform and assays, and has made additional investments in rolling out the technology in countries with high burdens of TB. The key role played by the public sector in R&D and roll-out stands in contrast to the lack of public sector ability to secure affordable pricing and maintenance agreements.
Assuntos
Investimentos em Saúde , Técnicas de Diagnóstico Molecular/economia , COVID-19/diagnóstico , COVID-19/virologia , Bases de Dados Factuais , Infecções por HIV/diagnóstico , História do Século XX , História do Século XXI , Humanos , Técnicas de Diagnóstico Molecular/história , SARS-CoV-2/isolamento & purificação , Tuberculose/diagnóstico , Estados UnidosRESUMO
Children's healthcare has evolved over the years, and the pediatric laboratory has contributed to the clinical understanding of childhood disease through the application of new technology and knowledge. This article highlights the evolution of PCR technology to aid in the diagnosis of pediatric infections, from the discovery of the PCR, through the subsequent years when the clinical need exceeded the capability of the technology, until the current day, when application of the PCR is becoming commonplace.
Assuntos
Infecções Bacterianas/diagnóstico , DNA Bacteriano/genética , DNA Viral/genética , Técnicas de Diagnóstico Molecular , Patologia Molecular/métodos , Pediatria/métodos , Reação em Cadeia da Polimerase/métodos , Viroses/diagnóstico , Infecções Bacterianas/genética , Infecções Bacterianas/história , Infecções Bacterianas/microbiologia , Difusão de Inovações , Desenho de Equipamento , História do Século XX , História do Século XXI , Humanos , Técnicas de Diagnóstico Molecular/história , Técnicas de Diagnóstico Molecular/instrumentação , Patologia Molecular/história , Pediatria/história , Reação em Cadeia da Polimerase/história , Reação em Cadeia da Polimerase/instrumentação , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Viroses/genética , Viroses/história , Viroses/virologiaAssuntos
Técnicas de Diagnóstico Molecular/história , Imagem Molecular/história , Espectroscopia de Ressonância de Spin Eletrônica/história , História do Século XX , Humanos , Espectroscopia de Ressonância Magnética/história , Técnicas de Diagnóstico Molecular/métodos , Imagem Molecular/métodos , Espectroscopia de Luz Próxima ao Infravermelho/históriaAssuntos
Doença de Alzheimer/diagnóstico , Doença de Alzheimer/história , Técnicas de Diagnóstico Molecular/história , Semântica , Doença de Alzheimer/patologia , História do Século XX , História do Século XXI , Humanos , Técnicas de Diagnóstico Molecular/métodos , Técnicas de Diagnóstico Molecular/normas , Neuroquímica/história , Neuroquímica/métodos , Neuroquímica/normas , Neuroimagem/história , Neuroimagem/métodos , Neuroimagem/normas , Neuropsicologia/história , Neuropsicologia/métodos , Neuropsicologia/normasAssuntos
Técnicas de Diagnóstico Molecular/história , Imagem Molecular/história , Espectroscopia de Ressonância de Spin Eletrônica/história , História do Século XX , Humanos , Espectroscopia de Ressonância Magnética/história , Técnicas de Diagnóstico Molecular/métodos , Imagem Molecular/métodos , Espectroscopia de Luz Próxima ao Infravermelho/históriaRESUMO
With poor survival and high recurrence rates, early-stage lung cancer currently appears to be understaged or undertreated, or both. Although sentinel lymph node biopsy is standard for patients with breast cancer and melanoma, its success has been unreliable in non-small cell lung cancer. Sentinel lymph node biopsy might aid in the identification of lymph nodes at the greatest risk of metastasis and allow for more detailed analysis to select for patients who might benefit from adjuvant therapy. The early results in our recent clinical trial of patients with early-stage lung cancer have suggested that near-infrared imaging might offer a platform for reliable sentinel lymph node identification in these patients.
Assuntos
Carcinoma Pulmonar de Células não Pequenas/secundário , Medições Luminescentes , Neoplasias Pulmonares/patologia , Linfonodos/patologia , Técnicas de Diagnóstico Molecular , Espectroscopia de Luz Próxima ao Infravermelho , Carcinoma Pulmonar de Células não Pequenas/terapia , História do Século XIX , História do Século XX , História do Século XXI , Humanos , Medições Luminescentes/história , Medições Luminescentes/instrumentação , Neoplasias Pulmonares/terapia , Metástase Linfática , Técnicas de Diagnóstico Molecular/história , Técnicas de Diagnóstico Molecular/instrumentação , Estadiamento de Neoplasias , Valor Preditivo dos Testes , Prognóstico , Biópsia de Linfonodo Sentinela , Espectroscopia de Luz Próxima ao Infravermelho/história , Espectroscopia de Luz Próxima ao Infravermelho/instrumentação , Gravação em VídeoRESUMO
Reviewed are the history of invention of the molecular colony technique, also known under name "polony technology", applications of this method to studies of reactions between single RNA molecules, ultrasensitive diagnostics, gene cloning and screening in vitro, and also concepts on the origin of life that consider molecular colonies as a prototype of living organisms.
Assuntos
Clonagem Molecular , Técnicas de Amplificação de Ácido Nucleico/história , Q beta Replicase/história , Animais , DNA/química , DNA/história , História do Século XX , História do Século XXI , Humanos , Técnicas de Diagnóstico Molecular/história , Q beta Replicase/química , RNA/química , RNA/históriaRESUMO
The rapid growth in molecular diagnostic testing, which has averaged between 10% and 20% per year for the past 5 years, is largely attributable to both breakthroughs in our basic understanding (i.e., the Human Genome Project) and in applied technology. In the past decade, molecular applications have moved from labor-intensive and manual to rapid and automated due to improvements in sample extraction, target amplification, and sensitive and specific detection schema. This review describes some of the more significant technological milestones of the past 10 years and, when tied to basic and applied research, how these have led to important clinical applications. The next decade promises even more exciting technologies and applications for the field of molecular laboratory medicine.
Assuntos
Técnicas de Diagnóstico Molecular/história , Técnicas de Laboratório Clínico/história , História do Século XX , Humanos , Técnicas de Diagnóstico Molecular/métodosRESUMO
Sixty years ago, the premier blood grouping laboratory was that of Robert Race in London. Agglutination tests and blood grouping had provided breakthroughs in immunology, genetics, and the solution of clinical problems. The significance of immunohematology was recognized by the clinical hematology community as a potent force in the expanding field of disorders of the blood and blood-forming organs. The instructions by Race to his London workers entitled Hints to Blood Groupers provide a picture of the immunohematology laboratory even before automation and differed slightly from the American techniques that derived from Landsteiner. Before agglutination is replaced in the near future by the emergence of molecular methods, the detailed method of a superb laboratory is recorded.
Assuntos
Tipagem e Reações Cruzadas Sanguíneas/história , Transfusão de Sangue/história , Testes de Hemaglutinação/história , Laboratórios Hospitalares/história , Tipagem e Reações Cruzadas Sanguíneas/métodos , Tipagem e Reações Cruzadas Sanguíneas/tendências , Transfusão de Sangue/métodos , Testes de Hemaglutinação/métodos , História do Século XX , Humanos , Laboratórios Hospitalares/organização & administração , Técnicas de Diagnóstico Molecular/história , Técnicas de Diagnóstico Molecular/métodosAssuntos
DNA/história , Técnicas de Diagnóstico Molecular/história , RNA/história , DNA/análise , Feminino , História do Século XX , História do Século XXI , Humanos , Procedimentos Analíticos em Microchip/história , Reação em Cadeia da Polimerase/história , Gravidez , Diagnóstico Pré-Natal/história , RNA/análiseRESUMO
This is an overview of the past, present and future of human Cytogenetics in Costa Rica. It started in 1965 at the University of Costa Rica where it has been developed slowly but steadily. There is only one overloaded clinical cytogenetic laboratory in the social security system. The tests currently performed are peripheral blood and blood marrow karyotypes, prenatal cytogenetic diagnosis (amniotic fluid and fetal blood) and less frequently skin biopsies. The task now is to standardize molecular cytogenetic techniques, we are actually working with PRINS in order to study submicroscopic subtelomeric rearrangements associated with mental retardation and other microdeletion syndromes as well.
Assuntos
Humanos , Recém-Nascido , Criança , Adolescente , Adulto , História do Século XX , História do Século XXI , Citogenética/história , Citogenética/tendências , Técnicas de Diagnóstico Molecular/história , Técnicas de Diagnóstico Molecular/tendências , Citogenética/métodos , Costa Rica , Técnicas de Diagnóstico Molecular/métodosRESUMO
This is an overview of the past, present and future of human Cytogenetics in Costa Rica. It started in 1965 at the University of Costa Rica where it has been developed slowly but steadily. There is only one overloaded clinical cytogenetic laboratory in the social security system. The tests currently performed are peripheral blood and blood marrow karyotypes, prenatal cytogenetic diagnosis (amniotic fluid and fetal blood) and less frequently skin biopsies. The task now is to standardize molecular cytogenetic techniques, we are actually working with PRINS in order to study submicroscopic subtelomeric rearrangements associated with mental retardation and other microdeletion syndromes as well.
Assuntos
Citogenética/história , Citogenética/tendências , Técnicas de Diagnóstico Molecular/história , Técnicas de Diagnóstico Molecular/tendências , Adolescente , Adulto , Criança , Costa Rica , Citogenética/métodos , História do Século XX , História do Século XXI , Humanos , Recém-Nascido , Técnicas de Diagnóstico Molecular/métodosRESUMO
Reverse allele specific oligonucleotide assays provide a robust method for the molecular characterization of high-mutation spectrum disorders. Commercial test have been developed for human leukocyte antigens class I and class II regions of human chromosome 6, the cystic fibrosis transmembrane conductance regulator at 7q31 and strains of human Hepatitis B and C virus. In their most developed form, these assays rely upon highly multiplexed PCR reactions containing biotinylated primers providing a substrate for nonradioactive detection systems. Sophisticated reverse dot-blot technology involves mechanized covalent attachment of activated primary amine-conjugated oligonucleotides to carboxylated nylon membranes or bovine serum albumin. Subsequent to line or dot printing, membranes are stored or sold dry in preparation for hybridization. Circular spots or lines are visualized colorimetrically after hybridization through the use of streptavidin horseradish peroxidase incubation followed by development using tetramethylbenzidine and hydrogen peroxide, or via chemiluminescence after incubation with avidin alkaline phosphatase conjugate and a luminous substrate susceptible to enzyme activation, such as CSPD, followed by exposure to x-ray film. The entire procedure from blood specimen receipt to result usually requires less than 1 day. Because of the simplicity, speed, and generally high sensitivity and specificity, large numbers of individuals can be rapidly screened using this technology. Rapid turnaround is often required in prenatal diagnosis of cystic fibrosis, beta-thalassemia and hemoglobinopathies, giving this technology has special applicability in those genetic diseases. Commercial instruments are available which automate the hybridization and color development. In addition, scanning software can capture the probe reactivity pattern and interpret it in terms of a genotype.
