scholarly journals Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New “Fast-Second Winner” Strategy

2017 ◽  
Vol 21 (11) ◽  
pp. 647-657 ◽  
Author(s):  
Konstantinos Mitropoulos ◽  
David N. Cooper ◽  
Christina Mitropoulou ◽  
Spiros Agathos ◽  
Jürgen K.V. Reichardt ◽  
...  
Keyword(s):  
Developing Countries ◽  
Precision Medicine ◽  
Genomic Medicine

scholarly journals Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network

2021 ◽  
Vol 11 (7) ◽  
pp. 647
Author(s):  
Nina R. Sperber ◽  
Olivia M. Dong ◽  
Megan C. Roberts ◽  
Paul Dexter ◽  
Amanda R. Elsey ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Program Implementation ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Implementation Strategies ◽  
Clinical Decision ◽  
Implementing Change ◽  
Implementation Outcomes ◽  
Planning Framework

The complexity of genomic medicine can be streamlined by implementing some form of clinical decision support (CDS) to guide clinicians in how to use and interpret personalized data; however, it is not yet clear which strategies are best suited for this purpose. In this study, we used implementation science to identify common strategies for applying provider-based CDS interventions across six genomic medicine clinical research projects funded by an NIH consortium. Each project’s strategies were elicited via a structured survey derived from a typology of implementation strategies, the Expert Recommendations for Implementing Change (ERIC), and follow-up interviews guided by both implementation strategy reporting criteria and a planning framework, RE-AIM, to obtain more detail about implementation strategies and desired outcomes. We found that, on average, the three pharmacogenomics implementation projects used more strategies than the disease-focused projects. Overall, projects had four implementation strategies in common; however, operationalization of each differed in accordance with each study’s implementation outcomes. These four common strategies may be important for precision medicine program implementation, and pharmacogenomics may require more integration into clinical care. Understanding how and why these strategies were successfully employed could be useful for others implementing genomic or precision medicine programs in different contexts.

Trailblazing Precision Medicine in Europe: a joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

2021 ◽  
Author(s):  
Albrecht Stenzinger ◽  
Anders Edsjö ◽  
Carolin Ploeger ◽  
Mikaela Friedman ◽  
Stefan Fröhling ◽  
...  
Keyword(s):  
Personalized Medicine ◽  
Precision Medicine ◽  
Genomic Medicine

scholarly journals Bridging genomics research between developed and developing countries: the Genomic Medicine Alliance

2014 ◽  
Vol 11 (7) ◽  
pp. 615-623 ◽  
Author(s):  
David N Cooper ◽  
Angela Brand ◽  
Vita Dolzan ◽  
Paolo Fortina ◽  
Federico Innocenti ◽  
...  
Keyword(s):  
Developing Countries ◽  
Genomic Medicine ◽  
Genomics Research

scholarly journals From “Personalized” to “Precision” Medicine: The Ethical and Social Implications of Rhetorical Reform in Genomic Medicine

2016 ◽  
Vol 46 (5) ◽  
pp. 21-33 ◽  
Author(s):  
Eric Juengst ◽  
Michelle L. McGowan ◽  
Jennifer R. Fishman ◽  
Richard A. Settersten
Keyword(s):  
Precision Medicine ◽  
Genomic Medicine ◽  
Social Implications

scholarly journals Genome sequencing in the clinic: the past, present, and future of genomic medicine

2018 ◽  
Vol 50 (8) ◽  
pp. 563-579 ◽  
Author(s):  
Jeremy W. Prokop ◽  
Thomas May ◽  
Kim Strong ◽  
Stephanie M. Bilinovich ◽  
Caleb Bupp ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Genome Sequencing ◽  
Clinical Setting ◽  
Structural Changes ◽  
New Technologies ◽  
Cancer Genomics ◽  
Genomic Medicine ◽  
Driver Gene ◽  
The Past ◽  
The Future

Genomic sequencing has undergone massive expansion in the past 10 yr, from a rarely used research tool into an approach that has broad applications in a clinical setting. From rare disease to cancer, genomics is transforming our knowledge of biology. The transition from targeted gene sequencing, to whole exome sequencing, to whole genome sequencing has only been made possible due to rapid advancements in technologies and informatics that have plummeted the cost per base of DNA sequencing and analysis. The tools of genomics have resolved the etiology of disease for previously undiagnosable conditions, identified cancer driver gene variants, and have impacted the understanding of pathophysiology for many diseases. However, this expansion of use has also highlighted research’s current voids in knowledge. The lack of precise animal models for gene-to-function association, lack of tools for analysis of genomic structural changes, skew in populations used for genetic studies, publication biases, and the “Unknown Proteome” all contribute to voids needing filled for genomics to work in a fast-paced clinical setting. The future will hold the tools to fill in these voids, with new data sets and the continual development of new technologies allowing for expansion of genomic medicine, ushering in the days to come for precision medicine. In this review we highlight these and other points in hopes of advancing and guiding precision medicine into the future for optimal success.

scholarly journals Annotations of Recurrent Structural Variant Events in Pan-cancer Whole Genome Data for Precision Medicine

2021 ◽  
Author(s):  
Takahiko Koyama ◽  
Takanori Hasegawa ◽  
Rika Kasajima ◽  
Eigo Shimizu ◽  
Reitaro Tokumasu ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Genomic Medicine ◽  
Exon Skipping ◽  
Molecular Profile ◽  
Whole Genome ◽  
Design Development ◽  
Structural Variations ◽  
Molecular Events ◽  
Clinical Benefits ◽  
Medicine Analysis

Abstract In personalized cancer genomic medicine, characterizing a patient’s molecular profile based on comprehensive information is important for maximizing treatment benefits. However, current cancer genome analysis is centered on single nucleotide variation (SNV), gene expression, and copy number variation (CNV) but places little emphasis on structural variations (SV) beside fusions. To date, investigation of SVs has been limited because SV analysis entails a cumbersome annotation process. This study describes the design, development, and implementation of an annotation tool for SV, termed SVAnnotator. Detailed annotation was performed on the results of SV detection of 2,781 whole genome samples from the ICGC/TCGA PanCancer Analysis of Whole Genomes (PCAWG) with identifications of fusion, exon skipping, gene disruption, and tandem duplication SVs. These annotations of SVs will facilitate understanding of molecular events and further enhance utilities of precision medicine in stratifications, pathogenicity assessments and drug responses. Frequent novel SV events in MACROD2, FHIT, WWOX and CCSER1 were observed across many cancers. Importantly, SV events were frequently identified in well-established tumor suppressor genes including RB1, NF1, PTEN and TP53. As such, it is plausible that potential therapeutic opportunities are overlooked when SV analysis is not appropriately performed. Given the frequency of SVs detected in our study, SVanalysis with detailed annotation should be a routine part of comprehensive precision medicine analysis, and further studies are warranted to enhance clinical benefits as well as our understanding of uncharacterized SV events.

Genomics and Precision Medicine: Implications for Critical Care

2018 ◽  
Vol 29 (1) ◽  
pp. 28-35 ◽  
Author(s):  
Christine Kessler
Keyword(s):  
Health Care ◽  
Precision Medicine ◽  
Health Care Providers ◽  
Care Delivery ◽  
Genomic Medicine ◽  
Hospital Setting ◽  
Disease Diagnosis ◽  
Care Providers ◽  
New Paradigm ◽  
Current State

A new paradigm for disease diagnosis and treatment is emerging that will bring about changes in health care delivery in and out of the hospital setting. Over the past several decades, genomic medicine has been one of the fastest growing fields in acute and chronic health care. This quick growth has created a lag in genomics knowledge and preparation among nurses and health care providers. Genomic medicine may lead to more precise evaluation, diagnosis, and management of selected acute care conditions. This article reviews the current state of genetic and genomics science and looks at the expanding field of genomic medicine’s integration into precision medicine. The aim of this article is to raise awareness and spark further inquiry to the remarkable field of genomics and precision medicine.

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