HSR20-083: Real-World Utilization and Coding Variability in Medical Claims for Next-Generation Sequencing (NGS)-Based Diagnostic Tests Among Cancer Patients in the U.S.

Abstract We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients’ representatives, and other stakeholders in the field of human genetics. The statements that were written during the elaboration of the guidelines are presented here. The background document and full guidelines are available as supplementary material. They include many examples to assist the laboratories in the implementation of NGS and accreditation of this service. The work and ideas presented by others in guidelines that have emerged elsewhere in the course of the past few years were also considered and are acknowledged in the full text. Interestingly, a few new insights that have not been cited before have emerged during the preparation of the guidelines. The most important new feature is the presentation of a ‘rating system’ for NGS-based diagnostic tests. The guidelines and statements have been applauded by the genetic diagnostic community, and thus seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.

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Next-Generation Sequencing (NGS) in COVID-19: A Tool for SARS-CoV-2 Diagnosis, Monitoring New Strains and Phylodynamic Modeling in Molecular Epidemiology

Current Issues in Molecular Biology ◽

10.3390/cimb43020061 ◽

2021 ◽

Vol 43 (2) ◽

pp. 845-867

Author(s):

Goldin John ◽

Nikhil Shri Sahajpal ◽

Ashis K. Mondal ◽

Sudha Ananth ◽

Colin Williams ◽

...

Keyword(s):

Quality Control ◽

Next Generation Sequencing ◽

Real World ◽

Next Generation ◽

Comprehensive Review ◽

Current Testing ◽

Phylogenetic Evolution ◽

Next Generation Sequencing Ngs ◽

Ngs Data ◽

Generation Sequencing

This review discusses the current testing methodologies for COVID-19 diagnosis and explores next-generation sequencing (NGS) technology for the detection of SARS-CoV-2 and monitoring phylogenetic evolution in the current COVID-19 pandemic. The review addresses the development, fundamentals, assay quality control and bioinformatics processing of the NGS data. This article provides a comprehensive review of the obstacles and opportunities facing the application of NGS technologies for the diagnosis, surveillance, and study of SARS-CoV-2 and other infectious diseases. Further, we have contemplated the opportunities and challenges inherent in the adoption of NGS technology as a diagnostic test with real-world examples of its utility in the fight against COVID-19.

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Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history

PLoS ONE ◽

10.1371/journal.pone.0254101 ◽

2021 ◽

Vol 16 (7) ◽

pp. e0254101

Author(s):

Fatiha Salmi ◽

Fatima Maachi ◽

Amal Tazzite ◽

Rachid Aboutaib ◽

Jamal Fekkak ◽

...

Keyword(s):

Prostate Cancer ◽

Next Generation Sequencing ◽

Cancer Patients ◽

Positive Family History ◽

Prostate Cancer Risk ◽

Next Generation ◽

Brca1 And Brca2 ◽

Large Rearrangements ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing

Prostate cancer is the most common male cancer in Morocco. Although sporadic forms account for a large proportion of patients, familial forms of prostate cancer are observed in 20% of cases and about 5% are due to hereditary transmission. Indeed, germline mutations in BRCA1/2 genes have been associated with prostate cancer risk. However, the spectrum of these mutations was not investigated in Moroccan Prostate cancer patients. Thereby, the aim of this study was to characterize and to estimate the prevalence of germline BRCA1/2 mutations and large rearrangements in Moroccan patients with familial prostate cancer. The entire coding regions and intron/exon boundaries of BRCA1 and BRCA2 genes have been analyzed by next generation sequencing (NGS) in a total of 30 familial prostate cancer patients. Three pathogenic mutations were detected in four unrelated patients (13.3%). One BRCA1 mutation (c.1953_1956delGAAA) and two BRCA2 mutations (c.7234_7235insG and BRCA2ΔE12). In addition, sixty-three distinct polymorphisms and unclassified variants have been found. Early identification of germline BRCA1/2 mutations may be relevant for the management of Moroccan prostate cancer patients.

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1837P Comprehensive genomic profiling of SMARCA2/4 alterations in Chinese pan-cancer patients (pts) identified by next generation sequencing (NGS)

Annals of Oncology ◽

10.1016/j.annonc.2021.08.725 ◽

2021 ◽

Vol 32 ◽

pp. S1241-S1242

Author(s):

J. Liu ◽

S. Li ◽

T. Gao ◽

C. Wang ◽

Q. HE ◽

...

Keyword(s):

Next Generation Sequencing ◽

Cancer Patients ◽

Genomic Profiling ◽

Next Generation ◽

Comprehensive Genomic Profiling ◽

Next Generation Sequencing Ngs ◽

Pan Cancer ◽

Generation Sequencing

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CTNI-69. PRECISION NEURO-ONCOLOGY TREATMENT GUIDED BY NEXT GENERATION SEQUENCING (NGS)-BASED COMPREHENSIVE GENOMIC PROFILING: REAL WORLD EXPERIENCE IN HONG KONG

Neuro-Oncology ◽

10.1093/neuonc/noaa215.235 ◽

2020 ◽

Vol 22 (Supplement_2) ◽

pp. ii58-ii58

Author(s):

Tai-Chung Lam ◽

Shu Jen Chen ◽

Kien Thiam Tan ◽

Lai Fung Li ◽

Jenny K S Pu

Keyword(s):

Next Generation Sequencing ◽

Real World ◽

Choroid Plexus Papilloma ◽

High Grade Glioma ◽

Genomic Profiling ◽

High Grade ◽

Next Generation ◽

Comprehensive Genomic Profiling ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing

Abstract BACKGROUND The development of next generation sequencing (NGS) based comprehensive genomic profiling (CGP) has enabled identification of druggable somatic mutations in brain tumours. This cohort reviewed the efficacy of CGP-guided precision treatment in a tertiary neuro-oncology centre. METHODOLOGY From May 2017 to May 2020, CGP were arranged for 43 patients. All patients had exhausted conventional treatments or received CGP for clinical trial screening. Targeted deep NGS was used to assess the mutational status, single nucleotide variant, small insertions and deletions and copy number variant of 440 cancer-related genes. RESULTS The diagnoses of the 43 patients were GBM (n=23), high grade glioma (n=11), brain metastases (n=4), chordoma (n=3), atypical choroid plexus papilloma (n=1) and meningioma (n=1). In most of the patients (42/43, 97.7%), CGP identified at least one druggable targets with a median of 3. Based on the CGP, 27 patients received precision treatment (62.7%). Among these, 14 were GBM and 6 were other high grade glioma. Treatment given included PARP inhibitors, immunotherapy, multi-kinase inhibitor, selective CDK4/6 inhibitor and mTOR inhibitor. Clinical benefit was achieved in 20 patients out of 27 (74%), including 2 complete response (7.4%), 9 partial response (33.3%) and 9 stable disease (33.3%). The median progression free survival (PFS) were 183 days [95% confident intervals (CI): 81–302 days]. For GBM/high grade glioma patients, median PFS was 125 days [95% CI: 52–215] and six-month PFS was 32.7%. Treatment toxicity was mild except two patients developed grade 3 complications and one grade 5 complication (fatal neutropenic fever). For the 16 patients who did not receive precision treatment, one had no druggable target identified, nine were still stable on standard therapies, 6 were too weak when CGP was available. CONCLUSION CGP guided precision treatment for selected, advanced neuro-oncological patients yielded modest clinical efficacy and satisfactory safety profile in real world setting.

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