scholarly journals Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies

2015 ◽  
Vol 38 (3) ◽  
pp. 332-337 ◽  
Author(s):  
Rosane Paixão Schlatter ◽  
Ursula Matte ◽  
Carisi Anne Polanczyk ◽  
Patrícia Koehler-Santos ◽  
Patricia Ashton-Prolla
2001 ◽  
Vol 47 (6) ◽  
pp. 990-1000 ◽  
Author(s):  
Carole A Foy ◽  
Helen C Parkes

Abstract Background: Advances in molecular diagnostic technologies have enabled genetic testing in single closed-tube reactions. The purpose of this review is to highlight some of the platforms and technologies currently available for the homogeneous detection of targets and the application of the technologies in the clinical setting. Validation issues surrounding the technologies, which may need to be addressed before they can become widely accepted, will also be discussed. Approach: This review discusses the principles of several of the major technologies available for performing homogeneous genetic analyses. Publications arising from the application of the technologies in a wide range of clinical areas are used to highlight and compare the potential advantages and shortcomings of the various technologies. Content: This review is descriptive and focuses on three areas: the technologies available for performing homogeneous analysis, the clinical applications where the technologies are being used, and validation issues surrounding the acceptance of the technologies in the general clinical setting. Summary: This review intends to give the reader a greater understanding of the various technologies available for performing homogeneous genetic testing in the clinical laboratory. Through insight into the principles and performance characteristics underlying these technologies, the end user can evaluate their value and limitations in the clinical diagnostic setting.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Byron L. Lam ◽  
Bart P. Leroy ◽  
Graeme Black ◽  
Tuyen Ong ◽  
Dan Yoon ◽  
...  

AbstractInherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected individuals and enabling access to emerging gene therapy–based treatments and ongoing clinical studies. While advances in molecular diagnostic technologies have significantly improved the understanding of IRDs and identification of disease-causing variants, training in genetic diagnostics among ophthalmologists is limited. In this review, we will provide ophthalmologists with an overview of genetic testing for IRDs, including the types of available testing, variant interpretation, and genetic counseling. Additionally, we will discuss the clinical applications of genetic testing in the molecular diagnosis of IRDs through case studies.


2003 ◽  
Vol 127 (12) ◽  
pp. 1565-1572
Author(s):  
Susan H. Bernacki ◽  
Daniel H. Farkas ◽  
Wenmei Shi ◽  
Vivian Chan ◽  
Yenbou Liu ◽  
...  

Abstract Context.—Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular diagnostic applications. Owing to the novelty of these devices, demonstrations of their successful use in practical diagnostic applications are limited. Objective.—To assess the performance of the eSensor bioelectronic method in the validation of 6 Epstein-Barr virus–transformed blood lymphocyte cell lines with clinically important mutations for use as sources of genetic material for positive controls in clinical molecular genetic testing. Two cell lines carry mutations in the CFTR gene (cystic fibrosis), and 4 carry mutations in the HFE gene (hereditary hemochromatosis). Design.—Samples from each cell line were sent for genotype determination to 6 different molecular genetic testing facilities, including the laboratory developing the DNA biochips. In addition to the bioelectronic method, at least 3 different molecular diagnostic methods were used in the analysis of each cell line. Detailed data were collected from the DNA biochip output, and the genetic results were compared with those obtained using the more established methods. Results.—We report the successful use of 2 applications of the bioelectronic platform, one for detection of CFTR mutations and the other for detection of HFE mutations. In all cases, the results obtained with the DNA biochip were in concordance with those reported for the other methods. Electronic signal output from the DNA biochips clearly differentiated between mutated and wild-type alleles. This is the first report of the use of the cystic fibrosis detection platform. Conclusions.—Bioelectronic sensors for the detection of disease-causing mutations performed well when used in a “real-life” situation, in this case, a validation study of positive control blood lymphocyte cell lines with mutations of public health importance. This study illustrates the practical potential of emerging bioelectronic DNA detection technologies for use in current molecular diagnostic applications.


2006 ◽  
Vol 59 (2) ◽  
pp. 126-139 ◽  
Author(s):  
BARRY GLYNN ◽  
SINEAD LAHIFF ◽  
MARTINA WERNECKE ◽  
THOMAS BARRY ◽  
TERRY J SMITH ◽  
...  

2020 ◽  
Author(s):  
Deanna G Brockman ◽  
Christina A Austin-Tse ◽  
Renée C Pelletier ◽  
Caroline Harley ◽  
Candace Patterson ◽  
...  

Abstract Purpose: To evaluate the diagnostic yield and clinical utility of clinical genome sequencing (cWGS) as a first genetic test for patients with suspected monogenic disorders. Methods: We conducted a prospective randomized study with pediatric and adult patients recruited from genetics clinics at Massachusetts General Hospital who were undergoing planned genetic testing. Participants were randomized into two groups: standard-of-care genetic testing (SOC) only or SOC and cWGS. Results: 204 participants were enrolled and 99 received cWGS. cWGS returned 23 molecular diagnoses in 20 individuals: A diagnostic yield of 20% (20/99, 95%CI 12.3-28.1%)), which was not significantly different from SOC (17%, 95%CI 9.7%-24.6%, P=0.584). 19/23 cWGS diagnoses provided an explanation for clinical features or were considered worthy of additional workup by referring providers. While cWGS detected all variants reported by SOC, SOC failed to capture 9/23 cWGS diagnoses; primarily due to genes not included in SOC tests. Turnaround time was significantly shorter for SOC compared to cWGS (33.9 days vs 87.2 days, P<0.05). Conclusions: cWGS is technically suitable as a first genetic test and identified clinically relevant variants not captured by SOC. However, further studies addressing other variant types and implementation challenges are needed to support feasibility of its broad-scale adoption.


2015 ◽  
Vol 64 (1) ◽  
pp. 34-43
Author(s):  
Olga Sergeyevna Ryzhkova

High prevalence of sexually transmitted infections (STIs) and their substantial adverse effect on reproductive health of people necessitate the development of accurate and rapid tests for their diagnostics, in particular those that can be used at point-of-care (POC). The majority of current immunological POC-tests have high specificity; however, their sensitivity is mainly suboptimal. The future of POC-diagnostics of STIs - highly sensitive and specific, robust and affordable - is seen in the development and implementation of molecular diagnostic technologies (amplification, microfluidic, biosensor).


Author(s):  
Margaret Lock

This chapter illustrates an account of the shift, commencing in the late 1980s, to the molecularization of Alzheimer disease (AD), and the attempt to identify significant bodily changes as much as 20 years before behavioral changes can be diagnosed in individuals. It considers the rationale for efforts to formulate a “prodromal” diagnosis before behavioral symptoms or memory loss are detected, followed by a presentation of the involved molecular diagnostic tools (biomarkers) with emphasis on spinal taps, neuroimaging, and genetic testing. The significance of the first two of these biomarkers is attributed to their apparent ability to detect the onset of the amyloid cascade process. The chapter also discusses the anomalies and uncertainties associated with biomarker testing.


2009 ◽  
Vol 1 (01) ◽  
pp. 002-006 ◽  
Author(s):  
Ayan Dey ◽  
Sarman Singh

ABSTRACTEven though description of the magnifying glass goes back to 1021 by an Arabic physicist in his book, Antony van Leeuwenhoek was the first man to improve the then simple microscope for viewing biological specimens in 1674. This suggests that every discovery has scope for improvement, be it physics or be it biology. In the field of biology, scientists have long studied gene expression as a hallmark of gene activities reflecting the current cell conditions and response to host immune defense systems. These studies have been cumbersome, technically demanding and time-consuming. Application of microarrays has revolutionized this field and help understand the simultaneous expression of thousands of genes in a single sample put onto a single solid support. It is also now possible to compare gene expression in two different cell types, different stages of life cycle or two tissue samples, such as in healthy and diseased ones. Thus microarrays are beginning to dominate other conventional and molecular diagnostic technologies. The microarrays consist of solid supports onto which the nucleic acid sequences from thousands of different genes are immobilized, or attached at fixed locations. These solid supports themselves are usually glass slides, silicon chips or nylon membranes. The nucleic acids are spotted or synthesized directly onto the support. Application of microarrays is new for parasites. Most of these applications are done for monitoring parasite gene expression, to predict the functions of uncharacterized genes, probe the physiologic adaptations made under various environmental conditions, identify virulence-associated genes and test the effects of drug targets. The best examples are vector-borne parasites, such as Plasmodium, Trypanosoma and Leishmania, in which genes expressed, during mammalian and insect host stages, have been elucidated. Microarrays have also been successfully applied to understand the factors responsible to induce transformation from tachyzoite-to-bradyzoite and vice versa in Toxoplasma gondii. Thus microarrays provide a novel tool for diagnosis, prognosis and clinical management of infectious disease.


2021 ◽  
Vol 12 ◽  
Author(s):  
Jian Zhang ◽  
Hailong Lv ◽  
Linxian Li ◽  
Minjie Chen ◽  
Dayong Gu ◽  
...  

Molecular diagnostic (MDx) methods directly detect target nucleic acid sequences and are therefore an important approach for precise diagnosis of pathogen infection. In comparison with traditional MDx techniques such as PCR, the recently developed CRISPR-based diagnostic technologies, which employ the single-stranded nucleic acid trans-cleavage activities of either Cas12 or Cas13, show merits in both sensitivity and specificity and therefore have great potential in both pathogen detection and beyond. With more and more efforts in improving both the CRISPR trans-cleavage efficiencies and the signal detection sensitivities, CRISPR-based direct detection of target nucleic acids without preamplification can be a possibility. Here in this mini-review, we summarize recent research progresses of amplification-free CRISPR-Dx systems and explore the potential changes they will lead to pathogen diagnosis. In addition, discussion of the challenges for both detection sensitivity and cost of the amplification-free systems will also be covered.


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