Article
Oncology
Sneha Rajiv Jain, Wilson Sim, Cheng Han Ng, Yip Han Chin, Wen Hui Lim, Nicholas L. Syn, Nur Haidah Bte Ahmad Kamal, Mehek Gupta, Valerie Heong, Xiao Wen Lee, Nur Sabrina Sapari, Xue Qing Koh, Zul Fazreen Adam Isa, Lucius Ho, Caitlin O'Hara, Arvindh Ulagapan, Shi Yu Gu, Kashyap Shroff, Rei Chern Weng, Joey S. Y. Lim, Diana Lim, Brendan Pang, Lai Kuan Ng, Andrea Wong, Ross Andrew Soo, Wei Peng Yong, Cheng Ean Chee, Soo-Chin Lee, Boon-Cher Goh, Richie Soong, David S. P. Tan
Summary: This study aimed to analyze the learning curves of NGS and bioinformatics processes using statistical process control methods. The results showed significant reductions in TAT with accumulating experience. It was found that the bioinformatics team overcame the learning curve faster compared to the NGS team.
FRONTIERS IN ONCOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Sushmaa Chandralekha Selvakumar, K. Auxzilia Preethi, Kehinde Ross, Deusdedit Tusubira, Mohd Wajid Ali Khan, Panagal Mani, Tentu Nageswara Rao, Durairaj Sekar
Summary: Personalized or precision medicine combines genetic information with phenotypic and environmental characteristics to tailor healthcare to individuals, enabled by cancer genome sequencing. The advantages of NGS, such as limited sample requirements and the development of biomarkers, have accelerated personalized medicine.
Article
Pathology
Bashdar Mahmud Hussen, Sara Tharwat Abdullah, Abbas Salihi, Dana Khdr Sabir, Karzan R. Sidiq, Mohammed Fatih Rasul, Hazha Jamal Hidayat, Soudeh Ghafouri-Fard, Mohammad Taheri, Elena Jamali
Summary: Next-generation sequencing (NGS) has become increasingly popular in genomics studies due to advancements in sequencing technology. It is now being utilized in clinical oncology to improve cancer therapy through various approaches, including finding cancer mutations, identifying carriers of these mutations, and implementing personalized medicine. Personalized medicine has the potential to reduce medical expenses by shifting towards an individualized preventive and predictive approach. NGS can accelerate early disease diagnosis and discover pharmacogenetic markers that aid in personalized therapies. Additionally, NGS provides a more comprehensive understanding of cancer and uncovers pathways of cancer development.
PATHOLOGY RESEARCH AND PRACTICE
(2022)
Article
Genetics & Heredity
T. Imizcoz, C. Prieto-Matos, R. Manrique-Huarte, D. Calavia, A. Huarte, P. C. Pruneda, G. R. Ordonez, E. Canada-Higueras, A. Patino-Garcia, G. Alkorta-Aranburu, M. Manrique Rodriguez
Summary: An early etiological diagnosis of hearing loss positively impacts children's quality of life. Next-Generation Sequencing (NGS)-based gene panel testing has been proven to reduce the time between onset and diagnosis. In this study, sequencing of nuclear and mitochondrial genes in Spanish individuals with hearing loss revealed a genetic diagnosis in 34% of cases. Different inheritance patterns, rare gene variants, and pathogenic copy number variants were identified.
FRONTIERS IN GENETICS
(2023)
Review
Medicine, General & Internal
Alireza Tafazoli, Natalia Wawrusiewicz-Kurylonek, Renata Posmyk, Wojciech Miltyk
Summary: Pharmacogenomics, based on genomic profiles, is crucial for understanding diverse drug responses and effects in individuals, leading towards personalized medicine. Although next generation sequencing methods have provided genetic data for common medicines, the lack of clear guidelines for utilizing this data in routine treatment decisions remains a challenge.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Biotechnology & Applied Microbiology
Iuliia Branco, Altino Choupina
Summary: This paragraph highlights the importance of bioinformatics in understanding gene function and protein diseases or functions, as well as its role in providing scientists with the right means to explain biological processes, diseases, and the discovery of new medications.
APPLIED MICROBIOLOGY AND BIOTECHNOLOGY
(2021)
Article
Health Care Sciences & Services
Rebecca Daly, Kate Hetherington, Emily Hazell, Bethany R. Wadling, Vanessa Tyrrell, Katherine M. Tucker, Glenn M. Marshall, David S. Ziegler, Loretta Lau, Toby N. Trahair, Tracey A. O'Brien, Kiri Collins, Andrew J. Gifford, Michelle Haber, Mark Pinese, David Malkin, Mark J. Cowley, Jonathan Karpelowsky, Donna Drew, Chris Jacobs, Claire E. Wakefield
Summary: Precision medicine programs aim to identify personalized treatments for children with cancer, but the various professional groups involved in delivering these programs are understudied. This study explored the experiences of professionals involved in Australia's first precision medicine trial for children with poor-prognosis cancer. The professionals expressed both complexity in their roles and positive views about the impact of precision medicine on their profession.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Fabio Pastorino, Mario Capasso, Chiara Brignole, Serena Giglio, Veronica Bensa, Sueva Cantalupo, Vito Alessandro Lasorsa, Annalisa Tondo, Rossella Mura, Angela Rita Sementa, Alberto Garaventa, Mirco Ponzoni, Loredana Amoroso
Summary: Neuroblastoma is the most common extracranial solid tumor in childhood. The prognosis for patients with metastatic relapse or refractory disease is poor. The integration of genome sequencing into standard clinical practice is necessary for personalized therapy. In this study, whole exome sequencing was performed on two patients with relapsed NB, and actionable genetic variations were identified and treated accordingly. The results demonstrate the feasibility of incorporating clinical WES into pediatric oncology practice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Medical Laboratory Technology
Deepali Yadav, Bhagyashri Patil-Takbhate, Anil Khandagale, Jitendra Bhawalkar, Srikanth Tripathy, Priyanka Khopkar-Kale
Summary: Next-generation sequencing (NGS) has revolutionized genomics and is dramatically changing clinical diagnosis and precision medicine. NGS enables rapid and cost-effective analysis of large-scale genomic data, facilitating comprehensive exploration of disease genetic landscape. It is a powerful tool for disease diagnosis, prognosis, and personalized treatment strategies, allowing accurate identification of disease-causing variants and discovery of novel disease-associated genes and variants. NGS enhances our understanding of disease mechanisms and enables tailored medical interventions based on individual characteristics, contributing to the development of noninvasive diagnostic approaches.
CLINICA CHIMICA ACTA
(2023)
Article
Oncology
Apostolia M. Tsimberidou, Elena Fountzilas, Leonidas Bleris, Razelle Kurzrock
Summary: Transcriptomics is a valuable tool in understanding cancer mechanisms and identifying biomarkers. It enables the analysis of gene expression and identification of molecular alterations in tumor tissue, which can be used for clinical interventions. It also has applications in predicting and prognosticating biomarkers, improving risk stratification, and understanding the impact of genomic alterations. Additionally, transcriptomics can be used to identify markers predicting response to immunotherapy in clinical trials.
SEMINARS IN CANCER BIOLOGY
(2022)
Review
Chemistry, Analytical
Pelin Telkoparan-Akillilar, Dilek Cevik
Summary: Next-generation sequencing (NGS) technologies offer numerous advantages over classical Sanger sequencing, including decreasing costs and increasing efficiency, and have been successfully applied in various fields such as cancer therapy, drug discovery, and personalized medicine.
CURRENT ANALYTICAL CHEMISTRY
(2021)
Article
Oncology
Wencke Walter, Nicole Pfarr, Manja Meggendorfer, Philipp Jost, Torsten Haferlach, Wilko Weichert
Summary: Molecular diagnostics has played a crucial role in precision oncology and has undergone revolutionary developments in recent years. In most cases, it is no longer possible to select treatments for cancer patients without molecular characterization. However, there has been limited scientific research on preanalytical and analytical requirements, and standardization and quality assessment have played a marginal role in the field.
SEMINARS IN CANCER BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Ethan Hau Yin Lam, Fengqing Yu, Sabrina Zhu, Zongjie Wang
Summary: In the past decade, personalized medicine has made significant progress in addressing patient-specific disease complexities and developing individualized treatment strategies. The emergence of 3D bioprinting has provided novel opportunities for personalized medicine, although current bioprinted constructs have limitations in achieving anatomically realistic organs with mature biological functions. This review discusses the principles and realizations of bioprinting, focusing on techniques such as extrusion printing and digital light processing (DLP). It also explores the applications of bioprinted constructs in regenerative medicine and drug discovery. Despite the challenges, bioprinting shows promise as an empowering technology to overcome critical obstacles in personalized medicine.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Kenneth D. Doig, Christopher G. Love, Thomas Conway, Andrei Seleznev, David Ma, Andrew Fellowes, Piers Blombery, Stephen B. Fox
Summary: This study examines the analysis of genetic variants in oncology patients over a six year period, revealing a significant percentage of variants not present in common public variant resources. The study highlights the need for greater curation effort in handling low-recurrence variants in clinical reporting.
BMC MEDICAL GENOMICS
(2022)
Review
Medicine, General & Internal
Bianca Tesi, Catherine Boileau, Kym M. Boycott, Guillaume Canaud, Mark Caulfield, Daniela Choukair, Sue Hill, Malte Spielmann, Anna Wedell, Valtteri Wirta, Ann Nordgren, Anna Lindstrand
Summary: Molecular diagnostics plays a crucial role in tailoring individual treatment and care based on molecular data. Genome sequencing (GS) is emerging as the primary method for precision diagnostics in rare diseases, due to its improved diagnostic yield and ability to detect a broad range of genetic aberrations. By integrating precision medicine into clinical practice, GS can accelerate targeted drug development and improve patient management in rare diseases.
JOURNAL OF INTERNAL MEDICINE
(2023)