Review
Health Care Sciences & Services
Filippo Cappello, Valentina Angerilli, Giada Munari, Carlotta Ceccon, Marianna Sabbadin, Fabio Pagni, Nicola Fusco, Umberto Malapelle, Matteo Fassan
Summary: This review provides an overview of the application of NGS in molecular diagnostics and discusses the technical issues and challenges associated with its incorporation in pathology diagnostics.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Oncology
Nikhil Shri Sahajpal, Ashis K. Mondal, Harmanpreet Singh, Ashutosh Vashisht, Sudha Ananth, Daniel Saul, Alex R. Hastie, Benjamin Hilton, Barbara R. DuPont, Natasha M. Savage, Vamsi Kota, Alka Chaubey, Jorge E. Cortes, Ravindra Kolhe
Summary: The current genetic testing of myeloid cancers lacks resolution and is limited to specific genomic regions/genes. This study used a combination of high-resolution cytogenetic technology and next-generation sequencing to obtain a comprehensive genomic profile of these tumors. The combinatorial approach identified new genetic alterations and clinically relevant alterations in previously negative cases.
Article
Pathology
Jennifer Kerkhof, Cassandra Rastin, Laila Schenkel, Hanxin Lin, Bekim Sadikovic
Summary: This study demonstrates the clinical validation of the KAPA HyperChoice target enrichment system in NGS pipelines. It shows that the system provides high-quality and uniform data with complete sensitivity and specificity for all variant types, while reducing cost and turnaround time.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2023)
Article
Oncology
T. M. Reissig, I. Tzianopoulos, S. -T. Liffers, V. K. Rosery, M. Guyot, S. Ting, M. Wiesweg, S. Kasper, P. Meister, T. Herold, H. H. Schmidt, B. Schumacher, D. Albers, P. Markus, J. Treckmann, M. Schuler, H. -u. Schildhaus, J. T. Siveke
Summary: This study evaluated the clinical outcomes and mutational status of pancreatic cancer patients treated with a molecularly guided treatment approach. The results showed that a small-sized gene panel can effectively identify treatment options for pancreatic cancer patients. The study proposes molecular sequencing as a standard of care for identifying KRAS wild-type and rare molecular subsets in pancreatic cancer for targeted treatment strategies.
Review
Biochemistry & Molecular Biology
Alina Penkova, Olga Kuziakova, Valeriia Gulaia, Vladlena Tiasto, Nikolay V. Goncharov, Daria Lanskikh, Valeriia Zhmenia, Ivan Baklanov, Vladislav Farniev, Vadim Kumeiko
Summary: Glioma is a challenging type of cancer due to late-stage diagnosis. The clinical symptoms of glioma are unclear and the available low-invasive testing methods are not effective. Liquid biopsy approaches, such as next-generation sequencing, have shown advantages in glioma diagnosis. However, the cost of such diagnostics remains high and high-throughput diagnostics are not suitable for molecular profiling of gliomas. This review highlights available assays for glioma diagnosis and discusses the possibility of integrating routine molecular methods into glioma diagnosis.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Kevin Yauy, Charles Van Goethem, Henri Pegeot, David Baux, Thomas Guignard, Corinne Theze, Olivier Ardouin, Anne-Francoise Roux, Michel Koenig, Anne Bergougnoux, Mireille Cossee
Summary: The transition from targeted sequencing to exome or genome sequencing in clinical contexts lacks clear recommendations or methodology. This study developed a method for evaluating the performance of exome sequencing strategies based on specific sequencing metrics. The study compared different exome kits and a targeted sequencing method, finding significant differences in coverage and PCR duplicates. This study is important for assisting molecular diagnostic laboratories in adopting and evaluating exome sequencing kits in a diagnostic context.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Clara Vicente-Garces, Elena Esperanza-Cebollada, Sara Montesdeoca, Montserrat Torrebadell, Susana Rives, Jose Luis Dapena, Albert Catala, Nuria Conde, Mireia Camos, Nerea Vega-Garcia
Summary: The development of a targeted NGS panel has been validated for use in pediatric acute leukemia diagnosis, prognosis, and treatment, showing high sensitivity and specificity for detecting genetic variants and fusion genes associated with childhood cancer.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Article
Oncology
Julia Boeck, Katja Maurus, Elena Gerhard-Hartmann, Stephanie Braendlein, Katrin S. Kurz, German Ott, Ioannis Anagnostopoulos, Andreas Rosenwald, Alberto Zamo
Summary: Diagnosing T-cell lymphomas is challenging and current diagnostic procedures may still leave room for doubt. Recent genetic analysis has identified diagnostically relevant mutations with potential prognostic value. We developed a lean approach using a small amplicon-based panel that can be used in routine diagnostic labs, providing high success rates (97%) and detecting mutations in the majority (79%) of tested T-cell lymphoma samples.
FRONTIERS IN ONCOLOGY
(2023)
Article
Genetics & Heredity
Alesa Kristan, Tadej Pajic, Ales Maver, Tadeja Rezen, Tanja Kunej, Rok Kolic, Andrej Vuga, Martina Fink, Spela Zula, Helena Podgornik, Sasa Anzej Doma, Irena Preloznik Zupan, Damjana Rozman, Natasa Debeljak
Summary: An erythrocytosis is characterized by an increase in red blood cell mass, often associated with genetic variants in genes related to oxygen sensing, hematopoietic cell maturation, and oxygen transfer. Classical sequencing approaches may only provide a correct diagnosis for a fraction of patients with congenital erythrocytosis, as the genetic background of the disorder is more complex and involves additional genes. A targeted next-generation sequencing approach was used in this study to identify genetic variants in patients with unexplained erythrocytosis, leading to the discovery of pathogenic and novel variants in relevant genes, as well as the identification of potential associations with iron metabolism genes. This study contributes to improving the diagnosis and management of Slovenian patients with erythrocytosis and provides insights for future research into the etiology of this rare hematological disorder.
FRONTIERS IN GENETICS
(2021)
Article
Emergency Medicine
Krista L. L. Snyder, Jon F. F. Merz
Summary: We conducted a census of trials conducted under the U.S. FDA's EFIC rule and found that 30 out of 69 completed trials were terminated early, mainly due to futility (15 trials) and poor recruitment (10 trials). The rate of trial conduct has remained relatively constant since 2001, with approximately 18 trials started in each 5-year period.
ACADEMIC EMERGENCY MEDICINE
(2023)
Article
Microbiology
Simone J. C. F. M. Moorlag, Jordy P. M. Coolen, Bart van den Bosch, Elisabeth Hui-Mei Jin, Jochem B. B. Buil, Heiman F. L. Wertheim, Willem J. G. Melchers
Summary: The study evaluates the clinical utility of a novel method called 16S RC-PCR for the identification of bacterial species. It shows that this method is more sensitive and accurate compared to the traditional 16S Sanger sequencing method, leading to improved clinical outcomes and patient care.
MICROBIOLOGY SPECTRUM
(2023)
Article
Oncology
Lorraine Dalens, Julie Niogret, Coureche Guillaume Kaderbhai, Romain Boidot
Summary: This study compared the value of whole exome sequencing (WES) and smaller gene panels in the diagnosis and management of non-small-cell lung cancer (NSCLC). The results showed that WES detected more mutations, but had lower efficiency for common mutations. Therefore, smaller targeted panels may be preferred for the initial diagnosis of metastatic NSCLC.
FRONTIERS IN ONCOLOGY
(2022)
Article
Psychology, Multidisciplinary
Edward Jacobs
Summary: As psychedelic-assisted psychotherapy (PAP) becomes more widely used, there is a need to adapt clinical ethics to accommodate its unique features. The long-term effects of psychedelic drugs and the transformative experiences they induce challenge the traditional understanding required for informed consent. This article explores the ethical implications and consequences for prospective patients.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Genetics & Heredity
Federico Anaclerio, Lucrezia Pilenzi, Anastasia Dell'Elice, Rossella Ferrante, Simona Grossi, Luca Maria Ferlito, Camilla Marinelli, Simona Gildetti, Giuseppe Calabrese, Liborio Stuppia, Ivana Antonucci
Summary: A significant number of families with Mendelian forms of BC, OC, or PC do not have detectable BRCA1/2 mutations. The use of multi-gene hereditary cancer panels increases the likelihood of identifying patients with cancer predisposing gene variants. This study assessed the increase in detection rate of pathogenic mutations in BC, OC, and PC patients when using a multi-gene panel.
FRONTIERS IN GENETICS
(2023)
Article
Public, Environmental & Occupational Health
Rafael Dal-Re, Teck Chuan Voo, Soren Holm
Summary: The study investigated whether any changes were made to the original participant's information sheet/informed consent form (PIS/ICF) provided by the WHO Solidarity Plus team when transferred to participating countries. The results showed that no edits were made in 8 countries, some elements were added in 8 countries, and 3 countries did not participate. The conclusion suggests that WHO should consider adding three omitted elements in the PIS/ICFs of future similar trials.
JOURNAL OF GLOBAL HEALTH
(2023)