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The Brave New World of Genomics
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Sandra García Herrero, Blanca Simon Frances, Cristian Perez-Garcia, Javier Garcia-Planells
Nowadays, the amount of genetic data and information on variants provided by the different sequencing technologies is very high, especially when whole-genome sequencing is performed, but the quality and level of clinical and scientific evidence of those variants is still limited, making the clinical interpretation process difficult. For example, if we re-analyze the whole exome data of an undiagnosed individual 12 months after the first analysis, the overall diagnosis rate increases from 30 to 41% [18], thanks to the advances in research and knowledge over the 12-month period as well as the improvement in classification processes.
Genetic testing for personalised medicine and limitations of the current medical practise in public health
Published in Ben Y.F. Fong, Martin C.S. Wong, The Routledge Handbook of Public Health and the Community, 2021
Genome refers to the entire DNA sequence of a cell. Nowadays, the entire genomic information of cells, from microbes to human beings, can be read accurately within few hours using the whole genome sequencing (WGS) technique. The most anticipated use of WGS is for cancer patients as gene mutations play a crucial role in cancer development (Nakagawa & Fujita, 2018). Through comparison between the genetic profiles from the patient’s normal cells and abnormal cancer cells in biopsy, health care professionals are able to comprehend the dysregulated signalling pathways in cells. In addition, comparison of the methylation profiles of genes is likely to provide additional information on the epigenetic causes of the disease (Nakagawa & Fujita, 2018).
Genetics
Published in Cathy Laver-Bradbury, Margaret J.J. Thompson, Christopher Gale, Christine M. Hooper, Child and Adolescent Mental Health, 2021
Until recently the cost of sequencing techniques precluded their use in large-scale studies. However, technological advances in recent years have made such studies more feasible. As costs have declined, whole-genome sequencing is beginning to be used for diagnostic and treatment purposes in clinical practice for other areas of medicine, including neonatology.
Genomic medicine in Africa: a need for molecular genetics and pharmacogenomics experts
Published in Current Medical Research and Opinion, 2023
Oluwafemi G. Oluwole, Marc Henry
Limited capacity is the forefront of the challenges facing the implementation of genomic medicine,5 because advanced genomic techniques are needed to implement genomic medicine. For example, it costs about $250 per sample for whole-exome sequencing of X50 coverage, and about $1800 for whole-genome sequencing. The issue regarding the storage systems and securing licenses for cloud computing also limit robust data analyses in genomic medicine. Beside, due to numerous identification of variants of unknown significance,6. more advanced knowledge and analyses are necessary to determine the relevance of these genetic variants to genomic medicine. The study aims to identify the gaps in knowledge and highlight the current state of genomic medicine in Africa to improve research interests in this area.
The triple negative breast cancer drugs graveyard: a review of failed clinical trials 2017-2022
Published in Expert Opinion on Investigational Drugs, 2022
Beatrice Taurelli Salimbeni, Carla Corvaja, Carmine Valenza, Paola Zagami, Giuseppe Curigliano
Furthermore, multiple pathways may be simultaneously involved in carcinogenesis and intracellular cross-talk might be responsible for resistance to target therapy. Nevertheless, targeting concurrently multiple pathways has not led to effective results and showed unacceptable toxicity. Another significant issue is the low prevalence of potentially actionable alterations; hence, the need for large-scale access to whole-genome sequencing assessments and their validation in prospective studies, in order to identify not only possible targets but also prognostic and predictive biomarkers of response. Moreover, during clinical trials, multiple molecular assessments of the tumor should be included, with repeated liquid biopsies or tumor sample collections pre- and post-treatment. This would allow us to observe molecular changes under drug pressure.
Predicting neoadjuvant chemoradiotherapy response with functional imaging and liquid biomarkers in locally advanced rectal cancer
Published in Expert Review of Anticancer Therapy, 2022
Trang Thanh Pham, Stephanie Lim, Michael Lin
The utility of serial ctDNA measurement in therapy monitoring has been explored [130]. Serial sampling revealed that the median ctDNA fell during chemoradiation, and there was a significant difference in postoperative ctDNA between responders (ypT0-2) having 2.2 ng/ml and nonresponders (ypT3-4) 5.1 ng/ml. Subsequent studies have demonstrated similar findings, with fall in ctDNA correlating with response [131–135]. The majority of these studies utilized real-time PCR, which is an ‘informed’ approach, targeting known genes of interest in the tumor. Some studies however, used next generation sequencing or whole genome sequencing which is an agnostic or untargeted approach, allowing for a vast array of genes to be analyzed however may be cost prohibitive in clinical practice. ctDNA has also been shown to have prognostic utility in LARC, with studies demonstrating that the presence of ctDNA post treatment correlated with poorer survival outcomes [134–139]. ctDNA is currently being investigated in clinical trials in LARC to stratify adjuvant treatment (Australia New Zealand Clinical Trials Registry; ACTRN12617001560381). ctDNA has also been looked at in the neoadjuvant chemotherapy approach in LARC, with the presence of ctDNA post neoadjuvant treatment or presurgery being associated with poorer survival outcomes [140].