scholarly journals Next-generation Sequencing in the Clinical Decision Making in Hypertrophic Cardiomyopathy

2017 ◽  
Vol 04 (01) ◽  
Author(s):  
Viktor J Horvath ◽  
Kristof Arvai ◽  
Janos P Kosa ◽  
Bernadett Balla ◽  
Balint Tobias ◽  
...  
Keyword(s):  
Decision Making ◽  
Next Generation Sequencing ◽  
Hypertrophic Cardiomyopathy ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center

2019 ◽  
Vol 51 (1) ◽  
pp. 61-69 ◽  
Author(s):  
Hannes Hoelz ◽  
Christian Herdl ◽  
Lucia Gerstl ◽  
Moritz Tacke ◽  
Katharina Vill ◽  
...  
Keyword(s):  
Decision Making ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Clinical Management ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Pediatric Epilepsy ◽  
Next Generation ◽  
The Impact ◽  
Generation Sequencing

Background. Next-generation sequencing (NGS) describes new powerful techniques of nucleic acid analysis, which allow not only disease gene identification diagnostics but also applications for transcriptome/methylation analysis and meta-genomics. NGS helps identify many monogenic epilepsy syndromes. Pediatric epilepsy patients can be tested using NGS epilepsy panels to diagnose them, thereby influencing treatment choices. The primary objective of this study was to evaluate the impact of genetic testing on clinical decision making in pediatric epilepsy patients. Methods. We completed a single-center retrospective cohort study of 91 patients (43 male) aged 19 years or less undergoing NGS with epilepsy panels differing in size ranging from 5 to 434 genes from October 2013 to September 2017. Results. During a mean time of 3.6 years between symptom onset and genetic testing, subjects most frequently showed epileptic encephalopathy (40%), focal epilepsy (33%), and generalized epilepsy (18%). In 16 patients (18% of the study population), “pathogenic” or “likely pathogenic” results according to ACMG criteria were found. Ten of the 16 patients (63%) experienced changes in clinical management regarding their medication and avoidance of further diagnostic evaluation, that is, presurgical evaluation. Conclusion. NGS epilepsy panels contribute to the diagnosis of pediatric epilepsy patients and may change their clinical management with regard to both preventing unnecessary and potentially harmful diagnostic procedures and management. Thus, the present data support the early implementation in order to adopt clinical management in selected cases and prevent further invasive investigations. Given the relatively small sample size and heterogeneous panels a larger prospective study with more homogeneous panels would be helpful to further determine the impact of NGS on clinical decision making.

Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis

2019 ◽  
Vol 73 (3) ◽  
pp. 168-171 ◽  
Author(s):  
Caterina Fumagalli ◽  
Alessandra Rappa ◽  
Chiara Casadio ◽  
Ilaria Betella ◽  
Nicoletta Colombo ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Clinical Decision Making ◽  
Parp Inhibitor ◽  
Clinical Decision ◽  
Tumour Tissue ◽  
Next Generation ◽  
High Concordance ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

BackgroundWith the approval of the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib for newly diagnosed, breast cancer gene (BRCA)1/2 mutated, ovarian cancer women, the assessment of BRCA1/2 tumour status will be shortly required at the time of diagnosis.AimTo investigate the feasibility of next-generation sequencing (NGS)-based BRCA tumour test on cytological specimens from ovarian cancer ascites.MethodsWe evaluated the BRCA1/2 status on neoplastic ascites and corresponding tumour tissue of 11 patients with ovarian cancer, using the NGS ‘Oncomine BRCA Research Assay’.ResultsThe NGS-based BRCA test on cytological samples had a success rate of 100%, with 11 of 11 concordant BRCA1/2 results between ascites and tumour tissues analyses, including two wild type samples and nine cases harbouring somatic or germline variants.ConclusionBRCA test may be performed on ovarian cancer ascites, reproducing BRCA1/2 tumour status and representing a useful tool for clinical decision-making.

Thank you, next: The impact of next-generation sequencing in clinical decision making.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13136-e13136
Author(s):  
William Davis ◽  
Gabriel Makar ◽  
Greg J. Kubicek
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Decision Making ◽  
Poor Response ◽  
Clinical Decision ◽  
Next Generation ◽  
Duration Of Treatment ◽  
Tissue Samples ◽  
Off Label ◽  
The Impact ◽  
Generation Sequencing

e13136 Background: Next Generation Sequencing (NGS) is increasingly used to identify actionable mutations for oncology treatment. We examined the results of NGS at our institution. Methods: We retrospectively reviewed the medical charts of 305 consecutive patients who had genomic testing performed on tumor samples from March 2014 to April 2017. Next Generation Sequencing was performed by Foundation One testing. Results: Of the 305 tissue samples sent to Foundation One, 189 reports were potentially usable. Reports were unusable due to an insufficient quantity of tissue (43), inadequate follow-up (32), cessation of oncologic care due to transferring to hospice or expiring (32), or a report not being generated due to the order being cancelled (4) or undocumented reasons (5). Of the 189 usable reports, 76 (40.21%) demonstrated an aberration targetable by on-label therapies, 126 (66.67%) via off-label therapies (66 of these had no available on-label treatment), and 170 (89.94%) revealed actionable aberrations via all potential avenues, including clinical trials. 19 (6.2%) yielded a change in management, 6 of these changes were utilizing on-label therapies, 6 were via off-label therapies, 3 were via enrollment in a clinical trial, and 4 involved discontinuing a medication with a predicted poor response. For the 6 patients with off-label use, median duration of treatment was 46 days and discontinued secondary to death (3 patients) or progression (3 patients). Conclusions: Only a minority of NGS assay results (6.2% percent of all tests ordered and 10% of useable tests) resulted in a management change. A small minority (6 patients, 1.9%) were started on off-label therapy based on NSG results and overall had poor responses to off-label treatment. While in theory NGS may improve oncology outcome, the results of our initial 305 patients who had NGS was poor.

scholarly journals Case Report: Fascioliasis Hepatica Precisely Diagnosed by Metagenomic Next-Generation Sequencing and Treated With Albendazole

2021 ◽  
Vol 8 ◽  
Author(s):  
Yaling Zhang ◽  
Huan Xu ◽  
Yi Liu ◽  
Juan Kang ◽  
Hairu Chen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Decision Making ◽  
Fasciola Hepatica ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Clinical Decision ◽  
The Body ◽  
Therapeutic Effects ◽  
Next Generation ◽  
Generation Sequencing

The clinical manifestations of fascioliasis hepatica in humans are unspecific. Traditional diagnosis relies on evidence of live parasites or eggs in the bile or feces. However, due to similar imaging manifestations, they are often misdiagnosed as malignant tumors. Here, we report a case of a 43-year-old woman with fever and space-occupying liver disease. Liver biopsy, parasite-specific antibody screening, and stool testing did not find any pathogens. Therefore, metagenomic next-generation sequencing (mNGS) and routine microbiological examinations were performed. Finally, Fasciola hepatica was only identified by mNGS. The body temperature of the patient and the eosinophil count remained normal, and the space-occupying liver lesions were significantly absorbed after more than 7 months of treatment with albendazole. The details of this case highlight the timely use of mNGS to identify parasites and judge therapeutic effects after treatment, providing important help for clinical decision-making.

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