Measuring the chronology of the translational process of molecular genetic discoveries

2019 ◽  
Vol 57 (8) ◽  
pp. 1136-1141
Author(s):  
François Rousseau ◽  
Carmen Lindsay ◽  
Yves Labelle ◽  
Yves Giguère
Keyword(s):  
Technology Transfer ◽  
Median Time ◽  
Molecular Genetic ◽  
Empirical Measure ◽  
Molecular Diagnostic ◽  
Clinical Test ◽  
Clinical Implementation ◽  
Key Factors ◽  
Fda Approval ◽  
Molecular Genetic Test

Abstract Background The process of technology validation and transfer of new molecular diagnostic tests towards the clinic faces challenges and needs to be improved. There is no empirical measure of the chronology and pace of technology transfer of molecular genetic discoveries. Methods We studied these for 29 molecular genetic test discoveries in order to (1) provide estimates of the timeframe between discovery of a clinical application and complete clinical implementation, and (2) compare the trajectories between different new tests to identify common patterns. We identified 11 publicly available “timestamps” for the technology transfer process ranging from discovery of the marker to use in a clinical setting. For each test selected, we searched public databases to identify available timestamps and dates. We plotted and compared trajectories of individual tests, including chronology. Results We show that there is much variability in the chronology of transfer between biomarkers. The median time between discovery of the marker and availability of the clinical test was 9.5 years (minimum 1). There was a median time of 18 years between test discovery and FDA approval (minimum 7 years), and it took a median of 17 years between discovery and the availability of a certified reference material for the 10 assays that have one (minimum 9 years). Conclusions We conclude that new molecular genetic tests take significant time between discovery and clinical implementation, and that further work is needed to pinpoint key factors, including policy and organization factors, that may allow for improving and streamlining this process.

scholarly journals Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results

2007 ◽  
Vol 9 (1) ◽  
pp. 95-98 ◽  
Author(s):  
Matthew J. McGinniss ◽  
Rebecca Chen ◽  
Victoria M. Pratt ◽  
Arlene Buller ◽  
Franklin Quan ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Genetic Test ◽  
Molecular Genetic ◽  
Test Results ◽  
Web Based ◽  
Genetic Test Results ◽  
Query Tool ◽  
Molecular Genetic Test

Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations

2003 ◽  
Vol 127 (12) ◽  
pp. 1565-1572
Author(s):  
Susan H. Bernacki ◽  
Daniel H. Farkas ◽  
Wenmei Shi ◽  
Vivian Chan ◽  
Yenbou Liu ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Cell Lines ◽  
Molecular Genetic ◽  
Hereditary Hemochromatosis ◽  
The Other ◽  
Molecular Diagnostic ◽  
Molecular Genetic Testing ◽  
Diagnostic Applications ◽  
Lymphocyte Cell

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.

scholarly journals Technology Transfer Projects in the UK

2018 ◽  
Vol 14 (2) ◽  
pp. 52-72 ◽  
Author(s):  
Martin George Wynn
Keyword(s):  
Technology Transfer ◽  
Product Development ◽  
New Product Development ◽  
New Technology ◽  
Analytical Framework ◽  
Service Improvement ◽  
Key Factors ◽  
Study Approach ◽  
Business Practitioners ◽  
The Uk

This article examines how technology transfer has operated in university-company projects undertaken in small to medium sized enterprises via the UK Knowledge Transfer Partnership scheme. It adopts a qualitative case study approach, focusing on three companies drawn from an initial review of fourteen technology transfer projects. This provides the foundation for the development of a model of 12 key factors that underpinned successful outcomes in these projects. The fourteen projects are reviewed in terms of their impact on either process change, service improvement or product development, drawing upon the post-project assessments of the funding body and the developed model. Findings suggest that using new technology to innovate internal processes and services is likely to prove more successful than projects focusing on new product development. The model provides an analytical framework that will be of interest and value to academics and business practitioners looking to develop university-industry partnerships involving technology change and innovation.

scholarly journals Metabolic and molecular-genetic changes in the liver during carbon tetrachloride intoxication

2020 ◽  
Vol 99 (9) ◽  
pp. 996-1000
Author(s):  
Denis O. Karimov ◽  
Tatyana G. Kutlina ◽  
Guzel’ F. Mukhammadiyeva ◽  
Yana V. Valova ◽  
Samat S. Baygildin ◽  
...  
Keyword(s):  
Gene Expression ◽  
Blood Serum ◽  
Pearson Correlation ◽  
Molecular Genetic ◽  
Experimental Studies ◽  
Pcr Amplification ◽  
Statistical Processing ◽  
Male Rats ◽  
Clinical Test ◽  
Genetic Changes

Introduction. Toxic hepatitis (TH) is a complex and multifaceted disease, the development of which is mediated by a complex of biochemical and molecular genetic interactions. The current understanding of the pathogenesis of TH and, as a consequence, its treatment is based on standardization of the phenotype of the disease, often without taking into account metabolic disorders within the cells. Material and methods. experimental studies were performed on white outbred male rats weighing 200-220 g. A 50% solution of TCM was used as a toxicant. Biochemical studies were performed on a laboratory medical photometer “Stat Fax 3300” using clinical test kits and control materials manufactured by Vector-Best LLC. Liver tissue for histological examination was subjected to the standard histological procedure and paraffin embedding. Sections 5-7 μm thick were stained with hematoxylin-eosin. Gene expression analysis was performed using real-time PCR amplification on a RotorGene instrument (QIAGEN). Statistical processing of experimental data was performed using the Pearson correlation coefficient and one-way analysis of variance (ANOVA). The results were considered reliable at p <0.05. Results. As a result of the analysis of the correlation of the expression of the studied genes and the level of biochemical parameters, it was found that the correlation of the expression of the Nfe2l2 and Gstm1 genes was r = 0.812 (p = 0.0001). The dynamics of gene expression of Chek, Gstm1, Gstp1, Nfe2l2, had a negative correlation with the level of AST activity in blood serum. And the expression of the genes Chek, Gclc, Gstm1, Nfe2l2, Ripk, Sod1 with an index of ALT activity in the blood serum. After 72 hours, the expression of almost all of the studied genes became multidirectional. And the correlation between indices is often not determined. An analysis of the relationship between the level of cytolysis enzymes and the correlation level of the studied genes showed that after 72 hours the correlation was observed in the Gstm1, Hmox, and Sod1 genes with the levels of AST and ALT.

Technology Transfer Projects in the UK

2020 ◽  
pp. 383-405
Author(s):  
Martin George Wynn
Keyword(s):  
Technology Transfer ◽  
Product Development ◽  
New Product Development ◽  
New Technology ◽  
Analytical Framework ◽  
Service Improvement ◽  
Key Factors ◽  
Study Approach ◽  
Business Practitioners ◽  
The Uk

This article examines how technology transfer has operated in university-company projects undertaken in small to medium sized enterprises via the UK Knowledge Transfer Partnership scheme. It adopts a qualitative case study approach, focusing on three companies drawn from an initial review of fourteen technology transfer projects. This provides the foundation for the development of a model of 12 key factors that underpinned successful outcomes in these projects. The fourteen projects are reviewed in terms of their impact on either process change, service improvement or product development, drawing upon the post-project assessments of the funding body and the developed model. Findings suggest that using new technology to innovate internal processes and services is likely to prove more successful than projects focusing on new product development. The model provides an analytical framework that will be of interest and value to academics and business practitioners looking to develop university-industry partnerships involving technology change and innovation.

Molecular avenues in targeted doxorubicin cancer therapy

2020 ◽  
Vol 16 (11) ◽  
pp. 687-700 ◽  
Author(s):  
Sayantani Roychoudhury ◽  
Ajay Kumar ◽  
Devyani Bhatkar ◽  
Nilesh Kumar Sharma
Keyword(s):  
Paradigm Shift ◽  
Molecular Genetic ◽  
Key Factors ◽  
Secondary Tumors ◽  
Evolutionary Changes ◽  
Repair Protein ◽  
Signaling Inhibitors ◽  
Dna Repair Protein ◽  
Environmental Adaptations ◽  
Health Disorders

In recent, intra- and inter-tumor heterogeneity is seen as one of key factors behind success and failure of chemotherapy. Incessant use of doxorubicin (DOX) drug is associated with numerous post-treatment debacles including cardiomyopathy, health disorders, reversal of tumor and formation of secondary tumors. The module of cancer treatment has undergone evolutionary changes by achieving crucial understanding on molecular, genetic, epigenetic and environmental adaptations by cancer cells. Therefore, there is a paradigm shift in cancer therapeutic by employing amalgam of peptide mimetic, small RNA mimetic, DNA repair protein inhibitors, signaling inhibitors and epigenetic modulators to achieve targeted and personalized DOX therapy. This review summarizes on recent therapeutic avenues that can potentiate DOX effects by removing discernible pitfalls among cancer patients.

scholarly journals Tumor BRCA Test for Patients with Epithelial Ovarian Cancer: The Role of Molecular Pathology in the Era of PARP Inhibitor Therapy

Cancers ◽  
2019 ◽  
Vol 11 (11) ◽  
pp. 1641 ◽  
Author(s):  
Caterina Fumagalli ◽  
Federica Tomao ◽  
Ilaria Betella ◽  
Alessandra Rappa ◽  
Mariarosaria Calvello ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Epithelial Ovarian Cancer ◽  
Success Rate ◽  
Parp Inhibitor ◽  
Turnaround Time ◽  
Molecular Diagnostic ◽  
Next Generation ◽  
Clinical Implementation ◽  
Generation Sequencing

The PARP inhibitor olaparib has been approved in the maintenance setting of platinum-sensitive epithelial ovarian cancer patients with germline or somatic BRCA1/2 mutation. Therefore, the availability of a tumor BRCA test has become a clinical need. We report the results of the clinical implementation of a tumor BRCA test within the frame of an institutional workflow for the management of patients with nonmucinous and nonborderline epithelial ovarian cancer. In total, 223 patients with epithelial ovarian cancer were prospectively analyzed. BRCA1/2 status was evaluated on formalin-fixed, paraffin-embedded tumor specimens using next-generation sequencing technology. The tumor BRCA test had a success rate of 99.1% (221 of 223 successfully analyzed cases) and a median turnaround time of 17 calendar days. Among the 221 cases, BRCA1 or BRCA2 pathogenic/likely pathogenic mutations were found in 62 (28.1%) cases and variants of uncertain significance in 25 (11.3%) cases. The concordance rate between tumor BRCA test results and germline BRCA1/2 status was 87%, with five cases harboring pathogenic/likely pathogenic somatic-only mutations. The next-generation, sequencing-based tumor BRCA test showed a high success rate and a turnaround time compatible with clinical purposes. The tumor BRCA test could be implemented in a molecular diagnostic setting and it may guide the clinical management of patients with epithelial ovarian cancer.

scholarly journals Effective communication of molecular genetic test results to primary care providers

2012 ◽  
Vol 15 (6) ◽  
pp. 444-449 ◽  
Author(s):  
Maren T. Scheuner ◽  
◽  
Maria Orlando Edelen ◽  
Lee H. Hilborne ◽  
Ira M. Lubin
Keyword(s):  
Primary Care ◽  
Genetic Test ◽  
Molecular Genetic ◽  
Effective Communication ◽  
Primary Care Providers ◽  
Test Results ◽  
Care Providers ◽  
Genetic Test Results ◽  
Molecular Genetic Test

scholarly journals Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities

2014 ◽  
Vol 60 (5) ◽  
pp. 724-733 ◽  
Author(s):  
Caitlin C Chrystoja ◽  
Eleftherios P Diamandis
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Clinical Test ◽  
Whole Genome ◽  
Clinical Implementation ◽  
Technological Advances ◽  
Challenges And Opportunities ◽  
Patient Health ◽  
Therapeutic Decision Making ◽  
The Cost

Abstract BACKGROUND Extraordinary technological advances and decreases in the cost of DNA sequencing have made the possibility of whole genome sequencing (WGS) as a highly accessible clinical test for numerous indications feasible. There have been many recent, successful applications of WGS in establishing the etiology of complex diseases and guiding therapeutic decision-making in neoplastic and nonneoplastic diseases and in various aspects of reproductive health. However, there are major, but not insurmountable, obstacles to the increased clinical implementation of WGS, such as hidden costs, issues surrounding sequencing and analysis, quality assurance and standardization protocols, ethical dilemmas, and difficulties with interpretation of the results. CONTENT The widespread use of WGS in routine clinical practice remains a distant proposition. Prospective trials will be needed to establish if, and for whom, the benefits of WGS will outweigh the likely substantial costs associated with follow-up tests, the risks of overdiagnosis and overtreatment, and the associated emotional distress. SUMMARY WGS should be carefully implemented in the clinic to allow the realization of its potential to improve patient health in specific indications. To minimize harm the use of WGS for all other reasons must be carefully evaluated before clinical implementation.

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